Glossary for Jaw symptoms

Medical terms related to Jaw symptoms or mentioned in this section include:

• $11q Partial Trisomy$: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• $14q+ syndrome$: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• $18p minus syndrome$: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
• $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $2q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $2q22-q24 deletion$: A rare chromosomal disorder where part of the long arm (q22-q24) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $3-Hydroxyisobutyric aciduria$: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
• $3q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $47,XXX syndrome$: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
• $4p16.3 deletion$: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
• $8p-Syndrome, partial$: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
• Achondrogenesis type 1A and 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
• Achondrogenesis type 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
• Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
• Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
• Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
• Acrofacial dysostosis atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
• Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
• Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
• Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
• Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
• Acrogeria (Gottron Type): An extremely rare, mild form of progeria.
• Actinomycosis: A chronic infection usually caused by an organism normally found in human bowels and mouths. The disease usually affects the face and neck and results in deep, lumpy abscesses that emit a grainy pus through multiple sinuses.
• Acutane embryopathy: A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects.
• Acyclovir - Teratogenic Agent: There is strong evidence to indicate that exposure to Acyclovir during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Agenesis of the corpus callosum - mental retardation - coloboma - micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
• Akaba-Hayasaka syndrome: A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.
• Al Gazali Hirschsprung syndrome: A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies.
• Al Gazali-Khidr-Prem Chandran: A very rare syndrome characterized mainly by short stature, eye problems and an unusual cherubic facial appearance.
• Alagille syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
• Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
• Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
• Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
• Ameloblastoma: A congenital tumor of the pituitary gland. Also called craniopharyngioma, craniopharyngeal duct tumor, pituitary adamantinoma or Rathke's pouch tumor.
• Amyoplasia congenital disruptive sequence: A rare genetic disorder characterized by congenital contractures of two or more different joints.
• Andersen-Tawil syndrome: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium.
• Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
• Aniridia - renal agenesis - psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation.
• Anophthalmia - cleft palate - micrognathia: A rare syndrome characterized mainly by absent eyes, cleft palate and a small jaw.
• Anophthalmos with limb anomalies: A rare disorder characterized by absent eyes
• Aortic Aneurysm, Thoracic: Bulging and weakness of the aorta in the area of the chest. The condition is life-threatening as death can occur rapidly if the aneurysm bursts.
• Arima syndrome: A rare disorder characterized mainly by eye and brain abnormalities.
• Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
• Arterial tortuosity syndrome: A rare disorder which affects the connective tissue that makes up blood vessels resulting in various arterial abnormalities. Connective tissue abnormalities also affect the skin and joints.
• Arthrogryposis - spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth.
• Arthrogryposis IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
• Arthrogryposis distal type II: A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects.
• Arthrogryposis multiplex congenita - pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
• Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
• Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
• Arthrogryposis, distal, type 2E: A rare syndrome characterized by contractures of the fingers and jaw.
• Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies: A very rare syndrome characterized mainly by mental retardation, permanent flexion of fingers, low pituitary hormone level and facial anomalies.
• Ashley syndrome: A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities.
• Atkin-Flatiz syndrome: A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies.
• Aughton syndrome: A very rare syndrome characterized primarily by small eyes, cleft palate, mental retardation and dextrocardia (heart located on right side of chest instead of left).
• Auriculo-condylar syndrome: A rare syndrome characterized by variable ear and jaw abnormalities.
• Autosomal Recessive Tetra-Amelia: A rare disorder characterized by the absence of all four extremities as well as skeletal, nervous system, craniofacial and other abnormalities. The condition is causes death before or soon after birth.
• Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
• Bamforth syndrome: A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning.
• Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
• Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
• Berlin Breakage syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. The features of this condition are virtually indistinguishable from the Nigmegen Breakage syndrome.
• Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
• Bixler-Christian-Gorlin syndrome: A very rare syndrome characterized primarily by widely spaced eyes, small ears and a clefts in the lip, palate and nose.
• Blepharophimosis - nasal groove - growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharophimosis - nasal groove - growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharophimosis telecanthus microstomia: A rare syndrome characterized by a flat face, small mouth and ear anomaly as well as a range of other abnormalities.
• Blepharophimosis, large cylindrical nose and severe intrauterine growth retardation: A rare syndrome characterized by eye and nose anomalies as well as severely retarded fetal growth.
• Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
• Bosviel syndrome: A rare condition where a blood blister on the uvula ruptures. It often occurs as a complication of tracheal intubation.
• Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
• Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
• Brachymetapody, anodontia, hypotrichosis, albinoidism: A rare syndrome characterized by short foot bones, total absence of teeth, reduced amount of hair and lack of skin pigmentation.
• Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip.
• Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
• Branchiootic syndrome: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset.
• Broken jaw: Fracture of the jaw bone (mandible)
• Bulimia nervosa: Eating disorder with binging (overeating) and purging (vomiting).
• Burkitt's lymphoma: A rare type of non-Hodgkin's lymphoma that occurs mostly in African children and is often initiated by the Epstein-Barr virus. Also called African lymphoma or Burkitt's tumor.
• Burn-McKeown syndrome: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
• Buttiens-Fryns syndrome: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
• CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
• Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
• Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
• Camptomelic dysplasia I: A rare condition characterized by dwarfism due to bowed shin and thigh bones.
• Camptomelic dysplasia II: A rare condition characterized by dwarfism due to bowed shin and thigh bones which tend to be shorter and wider than normal.
• Carbamazepine - Teratogenic Agent: There is strong evidence to indicate that exposure to Carbamazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
• Carpal deformity - micrognathia - microstomia: A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth.
• Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
• Catel-Manzke Syndrome: A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.
• Caudal appendage - deafness: A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage).
• Charlie M syndrome: A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs.
• Chemical poisoning - Strychnine: Strychnine is used as a rodenticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - White Phosphorus: White Phosphorus is a chemical used mainly in fertilizers, water treatment, rodenticides and insecticides (for cockroaches). Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Cherubism: An inherited condition marked by bone degradation of the jaws followed by development of fibrous tissue which causes the face to swell and hence have a cherubic appearance.
• Chitayat Meunier Hodgkinson syndrome: A very rare syndrome characterized by face and finger abnormalities
• Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
• Choanal atresia - deafness - cardiac defects - dysmorphism: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
• Chromosome 1(q12q22) duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q12q22) of chromosome 1 which results in various abnormalities.
• Chromosome 1, Partial Trisomy: A rare genetic disorder where part of the genetic material from chromosome 1 is duplicated so there are three copies in the body's cells rather than the normal two copies. The type and severity of symptoms is variable depending on the size and location of the genetic material duplicated.
• Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
• Chromosome 1, duplication 1p21 p32: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.
• Chromosome 1, monosomy 1p31 p22: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, missing teeth and small eyes and jaw.
• Chromosome 1, monosomy 1q25 q32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity.
• Chromosome 1, monosomy 1q32 q42: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.
• Chromosome 1, monosomy 1q4: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects.
• Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
• Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
• Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
• Chromosome 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Chromosome 11, Partial Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 11q partial deletion: A rare chromosomal disorder where a portion of chromosome 11 is missing and is characterized by trigonencephaly, heart defects and a large, carp-shaped mouth.
• Chromosome 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
• Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
• Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 13p duplication: A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects.
• Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
• Chromosome 13q partial deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 14 trisomy: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 14 trisomy syndrome: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
• Chromosome 14, deletion 14q, partial duplication 14p: A rare chromosomal disorder where deletion of a portion of chromosome 14 and duplication of another portion of chromosome 14 causes various abnormalities such as congenital heart defect, excessive skin on neck and mouth defects.
• Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
• Chromosome 14q deletion syndrome: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• Chromosome 14q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• Chromosome 15 trisomy: A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15.
• Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
• Chromosome 15q, partial duplication (distal q arm): A rare chromosomal disorder involving an extra copy of genetic material from the distal part of the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q, partial duplication (unbalanced translocation): A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is involved.
• Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 16p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 16q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
• Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
• Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 2, monosomy 2pter p24: A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities.
• Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Chromosome 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
• Chromosome 21, monosomy 21q22: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
• Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 21q, partial deletion: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
• Chromosome 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 22 monosomy syndrome: A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities.
• Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
• Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
• Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
• Chromosome 22q duplication syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is duplicated.
• Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
• Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
• Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
• Chromosome 3/B translocation: A rare chromosomal disorder involving a translocation of genetic material of chromosome 3.
• Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
• Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
• Chromosome 4, monosomy 4p14 p16: A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies.
• Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 4p15-16 deletion syndrome: A rare chromosomal disorder where part of the short arm (p15-16) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5, Trisomy 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 5, trisomy 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
• Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
• Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
• Chromosome 6, monosomy 6p23: A very rare chromosomal disorder characterized by various abnormalities including mental retardation, facial, finger and toe anomalies as well as heart, skeletal and neurological problems.
• Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6, partial trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7 deletion p15.1-p21.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• Chromosome 7, monosomy 7q3: A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.
• Chromosome 7, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7q partial deletion: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of deleted genetic material.
• Chromosome 8 deletion: A rare chromosomal disorder where there is only one copy of the genetic material of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is missing.
• Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
• Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
• Chromosome 8, Monosomy 8p2: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 8, Monosomy 8p21-pter: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 8, monosomy 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 8, monosomy 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Chromosome 8, partial trisomy: A rare chromosomal disorder where there are three copies of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8, trisomy 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 8p deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
• Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
• Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
• Chromosome 9, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
• Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
• Chromosome 9, trisomy 9q32: A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.
• Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
• Chromosome 9p deletion syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome 9 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
• Chromosome 9q duplication/chromosome 9p deletion syndrome: A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism).
• Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
• Cleft palate - short stature - vertebral anomalies: A very rare syndrome characterized by a cleft palate, short stature and abnormalities of the vertebrae in the spine.
• Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism: A rare syndrome characterized by the association of curly, choanal atresia, cleft palate and congenital hypothyroidism.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
• Collagenopathy, type 2 alpha 1: Collagenopathy, type 2 alpha 1refers to a wide range of conditions that can result from problems with cartilage collagen tissue due to a defect in the COL2A1 gene. Defects in the COL2A1 gene result in defective or reduced collagen production which in turn affects the development of connective tissues including bones. There are a wide range of possible conditions and symptoms. Some of the conditions include: spondyloepiphyseal dysplasia congenita, Stickler Syndrome, hypochondrogenesis and Kneist dysplasia.
• Complete Trisomy 18 syndrome: Complete Trisomy 18 syndrome is the most severe form of Edwards syndrome and involves an extra copy of chromosome 18 in all of the body cells. This severe form causes mental retardation and numerous physical defects that often cause death before birth or during infancy.
• Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).
• Congenital Gigantism with Skeletal Dysplasia: A rare syndrome characterized mainly by the association of a large size at birth with various skeletal anomalies.
• Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
• Congenital disorder of glycosylation type 1/IIX: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type I/IIX refers to cases where the specific abnormality cannot be determined.
• Congenital disorder of glycosylation type 1J: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ij is caused by a defect on chromosome 11q23.3 and involves a defect on the gene for UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase.
• Congenital disorder of glycosylation type 1K: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ik is caused by a defect on chromosome 16p13.3 and involves a defect in the gene for beta-1,4-mannosyltransferase. The disorder is generally fatal within a year or two of birth.
• Congenital disorder of glycosylation type 2E: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2e is caused by a defect on chromosome 16p and involves a defect in the gene for oligomeric complex-7.
• Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies: A rare syndrome characterized mainly by growth and mental retardation, seizures, unusual facial appearance and congenital hypoparathyroidism.
• Contractures hyperkeratosis lethal: A rare fatal congenital syndrome where numerous abnormalities arise from reduced fetal movement due to excessively tight skin.
• Coral snake poisoning: The Coral snake is a usually brightly colored, poisonous snake found mainly in America and Africa. The toxicity amongst species is variable. They are considered a shy snake and bites are usually the result of deliberate handling. Coral snakes have to bite for long enough to release the toxin through the fangs so envenomation tends to be rarer than for other snakes who can strike and envenomate rapidly. The snake venom contains toxins which mainly affect the nerve systems. Children tend to suffer more severe symptoms due to their smaller body size.
• Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
• Cornelia de Lange syndrome 2: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
• Corpus callosum agenesis - blepharophimosis - Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
• Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
• Cortical blindness - mental retardation - polydactyly: A very rare syndrome characterized by mental retardation, extra fingers and vision loss.
• Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
• Crane-Heise syndrome: A very rare fatal disorder characterized by numerous abnormalities.
• Cranioacrofacial syndrome: A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies.
• Craniofacial dysostosis - arthrogryposis - progeroid appearence: A very rare syndrome characterized usually caused by fetal exposure to the cytomegalovirus and resulting in features such as short stature, mental retardation, joint movement problems and facial anomalies.
• Craniofacial dyssynostosis: A very rare syndrome characterized primarily by the premature fusion of certain skull bones which gives the head an abnormal shape and also causes unusual facial features.
• Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
• Craniostenosis with congenital heart disease mental retardation: A very rare disorder characterized mainly by premature fusion of the sagittal skull bones, mental retardation and heart disease that is present at birth. The disorder generally involves other variable features.
• Craniosynostosis - congenital heart disease - mental retardation: A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation.
• Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb and urogenital craniofacial abnormalities.
• Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.
• Crumpled helices and small mouth: A very rare condition observed in two sibling and characterized by the association of a small mouth and crumpled ear helices.
• Cyclophosphamide - Teratogenic Agent: There is evidence to indicate that exposure to Cyclophosphamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cystic fibrosis - gastritis - megaloblastic anaemia: A rare syndrome characterized mainly by cystic fibrosis, metaloblastic anemia, mental retardation and gastritis due to helicobacter pylori.
• Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
• Del(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range and severity of symptoms is variable.
• Del(1) (q25.2-q31.2): A very rare chromosomal disorder where a portion of the long arm (q25.2-q31.2) of chromosome one is missing.
• Del(1) (q42-qter): A very rare chromosomal disorder where a portion of the long arm (q42-qter) of chromosome one is missing. The type and severity of symptoms is variable.
• Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Deletion 14q partial duplication 14p partial: A rare chromosomal disorder where deletion of a portion of chromosome 14 and duplication of another portion of chromosome 14 causes various abnormalities such as congenital heart defect, excessive skin on neck and mouth defects. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Deletion 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Deletion 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits.
• Deletion 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
• Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Deletion 6q16 q21: A rare chromosomal disorder characterized primarily by facial anomalies, mental retardation and a short head.
• Deletion 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletion 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletions of chromosome 8: A rare chromosomal disorder where there is only one copy of the genetic material of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is missing.
• Dennis-Fairhurst-Moore syndrome: A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair.
• Dental caries: Decay of the teeth
• Dental conditions: Conditions that affect ones dentition
• Dental symptoms: Symptoms affecting teeth or mouth area.
• Dental tissue neoplasm: A tumor that develops from tissues inside the mouth that form the teeth. There are a number of types of tumors that can develop from tooth forming tissues: ameloblastoma, Pindorg tumor, cementoblastoma and many others. The tumor may be benign or malignant but can cause dental problems even if it is benign.
• Desbuquois dysplasia: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
• Desmosterolosis: A rare condition characterized by abnormal cholesterol biosynthesis where one of the intermediate products of cholesterol synthesis (desmosterol) is deposited in the body (plasma and other tissues). The condition also involves variable congenital anomalies which can be lethal in some cases.
• DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
• Diabetes mellitus, permanent neonatal - pancreatic and cerebellar agenesis: A rare syndrome characterized by the abnormal development of the cerebellum and pancreas which results in diabetes mellitus.
• Diaphanospondylodysostosis: A rare disorder characterized by bone formation anomalies including a lack of bone formation in the spine during the fetal stage as well as kidney problems.
• Dislocated jaw: Improper separation of the jaw bones
• Distal Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• Distal arthrogryposis, Moore-Weaver type: A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities.
• Distal trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Distinctive Craniofacial Features - Pterygia - Mental Retardation: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Dobrow syndrome: A very rare syndrome characterized mainly by abnormal webbing inside the mouth, short stature, eye problems, mental retardation and small head, jaw, eyes and mouth.
• Dry socket: Exposure of jaw bone after a tooth extraction
• Duane anomaly - mental retardation: A very rare syndrome characterized mainly by mental retardation and eye movement problems (Duane anomaly).
• Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
• Dup (1) (q11-q22): A very rare chromosomal disorder where a portion of the long arm (q11-q22) of chromosome one is duplicated.
• Dup (1) (q23-qter) and del (3)(pter-p25): A very rare chromosomal disorder where a portion of the long arm (q23-qter) of chromosome one and the short arm of chromosome 3 (pter- p25) is duplicated. In the reported case, the infant died soon after birth.
• Dup(1) (q24-q31.2): A very rare chromosomal disorder where a portion of the long arm (q24-q31.2) of chromosome one is duplicated. In the reported case, death occurred within hours of birth.
• Duplication 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Duplication 12p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Duplication 18: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
• Duplication 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Duplication 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6q, partial: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Duplication 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Dysgnathia complex: A very rare disorder characterized by a small or absent jaw, ear abnormalities and a small mouth and tongue. The severity and range of symptoms is variable.
• Dysmorphism - cleft palate - loose skin: A very rare syndrome characterized mainly by facial abnormalities, an opening in the roof of the mouth and loose skin.
• Dysosteosclerosis: A rare inherited condition characterized by bone development abnormalities (excessive hardening of bone and flattened vertebrae), characteristic facial features. Excessive bone growth at the base of the skull can damage the optic nerves and affect vision.
• Ectodermal dysplasia - alopecia - preaxial polydactyly: A rare syndrome characterized by facial abnormalities, extra toes and sparse or absent hair.
• Ectodermal dysplasia - mental retardation - central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
• Edinburgh malformation syndrome: A rare syndrome characterized mental and physical retardation, infant death and various other abnormalities.
• Edward Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
• Edwards Syndrome: A rare inherited genetic disorder where a portion of chromosome 18 is duplicated. Most affected individuals die during the fetal stage and surviving infants have serious defects and tend to live for only a short while.
• Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
• Endomyocardial fibroelastosis: A rare heart malformation involving an abnormal thickening of the part of the heart muscle called the endocardium which affects the heart's function. Death is common in infancy and during early childhood.
• Enlarged jaw: swelling of the jaw could be due to inflammatory, trauma related or infective in nature
• Escher-Hirt syndrome: A very rare syndrome characterized by thick earlobes and conductive deafness due to an inner ear structure abnormality. The deafness is non-progressive and occurs at birth.
• Extrasystoles - short stature - hyperpigmentation - microcephaly: A rare syndrome characterized mainly by shortness, increased skin pigmentation, small head and
• Face symptoms: Symptoms affecting the face
• Faciodigitogenital syndrome, recessive form: A rare syndrome characterized by facial, digital and genital abnormalities.
• Faciothoracogenital syndrome: A rare syndrome characterized by facial, chest and genital abnormalities.
• Familial Treacher Collins syndrome: Treacher Collins syndrome is a rare inherited disorder characterized by down-slanting eye slits, malformed external ear, abnormal lower eyelid and underdeveloped cheeks. In the familial form, the condition tends to occur in a number of people within a family. The severity of the condition is variable.
• Familial rectal pain: An inherited severe pain syndrome involving very short but severe episodes of pain in the eyes, rectum or under the jaw. Triggers for episodes include sudden falls, sexual encounters, eating, crying, yawning, vivid dreams and fights. Defecation is the main trigger in infants and younger children. The eye and jaw pain is more common in older children and adults. Patients vary with respect to the number of locations involved.
• Femoral facial syndrome: A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.
• Fernhoff-Blackston-Oakley syndrome: A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities.
• Fetal aminopterin syndrome: A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate.
• Fetal minoxidil syndrome: Fetal exposure to minoxidil which can pass from the mother to the fetus through the placenta. Minoxidil is a blood vessel dilator mainly used to treat high blood pressure but has other uses as well. Increased body hair is the main consistent effect of exposure to the drug. The amount of hair usually returns to normal within the first year.
• Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
• Franceschetti-Klein syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting eye slits, defect of lower eye lid and malformation of external ear.
• Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
• Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
• Fraser-like syndrome: A very rare syndrome characterized by fused eyelids, airway anomalies, cysts in the ovaries and finger and toe abnormalities.
• Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
• Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
• Fryns-Fabry-Remans syndrome: A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body.
• Fryns-Smeets-Thiry syndrome: A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities.
• Funnel Web spider poisoning: The funnel web spider is a poisonous spider found mainly in Australia and America. The venom is toxic to the nervous system. There are two phases of poisoning - the first phase starts soon after envenomation and may result in death in severe cases. The second phase occurs one or two hours after envenomation where patients may recover somewhat but symptoms such as apnea and low blood pressure may develop.
• Game-Friedman-Paradice syndrome: A rare condition characterized by retarded growth, hydrocephaly, underdeveloped lungs and various other anomalies. The condition was observed in four offspring from one family.
• Gaucher disease - perinatal lethal form: A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease.
• Gaucher disease type 2: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 2 is acute neurological form apparent in infancy.
• German syndrome: A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.
• Glossopalatine ankylosis - micrognathia - ear anomalies: A very rare syndrome characterized mainly by a small jaw, ear abnormalities and abnormal attachment of back of tongue (glossopalatine ankylosis).
• Gnathodiaphyseal dysplasia: A rare genetic disorder affecting the skeleton and characterized by fragile bones, bowed long bones and recurring infections of the jaw bone.
• Golden-Lakin syndrome: A rare syndrome characterized by a webbed neck, sunken chest, curved spine abd various other abnormalities.
• Greenberg dysplasia: A very rare form of short-limbed dwarfism.
• Grix-Blankenship-Peterson syndrome: A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities.
• Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate: A rare syndrome characterized mainly by mental retardation, retarded growth, small head, cleft palate and facial abnormalities.
• Growth delay - mental retardation - mandibulofacial dysostosis - microcephaly - cleft palate: A rare syndrome characterized by delayed growth, mental retardation, small head, cleft palate and facial and jaw anomaly.
• HEM dysplasia: A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death.
• Hanhart Syndrome: An autosomal recessive disorder due to a deficiency in the body of the tyrosine amino transferase enzyme.
• Hanhart syndrome type II: A rare genetic disorder characterized by retarded growth, distinctive facial features, delayed puberty, excess fatty deposits in breast and abdominal area, small jaw , small tongue, hand and foot deformities and missing teeth.
• Hanhart syndrome type III: A rare genetic disorder characterized by hand and foot deformities, small jaw, small tongue, mental retardation and a cleft palate.
• Hanhart syndrome type IV: A rare disorder where a genetic error of amino acid metabolism results in thickened skin on palms and soles, skin lumps, mental retardation and finger, toe, eye, hair and teeth abnormalities.
• Harper dwarfism: A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome.
• Haspeslagh Fryns Muelenaere syndrome: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Head symptoms: Symptoms affecting the head or brain
• Heart attack: An acute myocardial infarction
• Hemolytic anemia, lethal - genital anomalies: A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death.
• Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
• Ho Kaufman-Mcalister syndrome: A rare congenital disorder characterized by congenital heart disease, skeletal abnormalities and a cleft palate.
• Holoprosencephaly deletion 2p: A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
• Holzgreve-Wagner-Rehder syndrome: A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies.
• Horseshoe Crab poisoning: The Asiatic horseshoe crab is eaten mainly in parts of Asia. Various parts of the crab become toxic during the reproductive season - flesh, unlaid green eggs and viscera. Poisoning most often occurs in Thailand. Eating the crabs should be avoided during reproductive season as poisoning can readily result in death.
• Houlston ironton temple syndrome de: A rare syndrome characterized by forearm abnormality, heart defect and an eye anomaly called blepharophimosis.
• Houlston-Ironton-Temple syndrome: A very rare syndrome characterized mainly by
• Hunter-Carpenter-Macdonald syndrome: A very rare syndrome characterized by various abnormalities including small head, facial anomalies, mental retardation and hair, skin and nail anomalies. Fetal exposure to alcohol is believed to be a factor in the syndrome.
• Hutchinson Gilford Syndrome: A rare genetic disorder characterized by alopecia and senile-like appearance.
• Hydrocephalus - growth delay - skeletal anomalies: A very rare syndrome characterized mainly by retarded growth, buildup of fluid (cerebrospinal fluid) inside the skull and various skeletal anomalies.
• Hydrolethalus syndrome: A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly.
• Hydrops ectrodactyly syndactyly: A very rare disorder characterized mainly be webbed fingers and toes, hand defect and hydrops (abnormal accumulation of fluid in the fetus).
• Hypertelorism - esophageal abnormalities - hypospadias: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Hypertelorism with esophageal abnormality and hypospadias: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Hyperthermia induced defects: A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction.
• Hypoparathyroidism - short stature - mental retardation: A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation.
• Hypospadias - hypertelorism: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Hypothyroidism - cleft palate: A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning.
• Hypothyroidism - dermoid cyst - cleft palate: A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities.
• Hypothyroidism postaxial polydactyly mental retardation: A very rare syndrome characterized by abnormally low thyroid levels, extra digits, mental retardation and unusually facial appearance.
• ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.
• Idaho syndrome: A very rare syndrome characterized by a variety of abnormalities including clubfoot, mental retardation, finger abnormalities and a congenital heart defect.
• Iida-Kannari syndrome: A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones.
• Infantile spasms - broad thumbs: A very rare syndrome characterized mainly by spasms during infancy and broad thumbs.
• Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation: A rare syndrome characterized mainly by a small head, brain anomaly, short digits, mental retardation and an eye defect.
• Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
• Jaw bruise: A haematoma that occurs on the jaw.
• Jaw clicking: Clicking noise from the jaw
• Jaw conditions: Conditions affecting the temporomandibular joint (the jaw).
• Jaw deformity: Swelling of the jaw causing cosmetic or functional deficit; usually occurs with significant pain.
• Jaw itch: A sensation that causes a desire to scratch the jaw
• Jaw joint disorders: Any condition involving the jaw joint.
• Jaw locking: also called lock jaw, muscle spasms develop in the jaw
• Jaw pain: Pain affecting the jaw or jawbone
• Jaw paralysis: A loss of the motor and or sensory function of the jaw due to either a muscular or neural mechanism
• Jaw paresthesia/ tingling: A loss of sensation located on the chin
• Jaw rash: An eruption on the skin of the jaw.
• Jaw spasm: A sudden involuntary contraction of the muscles of the jaw.
• Jaw sprain: Damage to ligaments in the jaw.
• Jaw swelling: Swelling of the jaw
• Jaw tingling/ paresthesias: A tingling and numbness located in the jaw
• Kalam-Hafeez syndrome: A rare disorder characterized by low parathyroid levels in infants, retarded growth, mental retardation, dysmorphic features and seizures.
• Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
• Kasznica-Carlson-Coppedge syndrome: A very rare syndrome characterized mainly by missing fingers or cleft hand, spina bifida and heart disease.
• Kaufman oculocerebrofacial syndrome: A rare syndrome characterized by a small head, narrow face, eye anomalies, severe mental retardation and long thin hands and feet. The disorder is recessively inherited.
• King-Denborough syndrome: A rare birth disorder characterized by musculoskeletal abnormalities and nerve muscle problems.
• Klippel Feil deformity conductive deafness absent vagina: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• Kniest-like dysplasia lethal: A lethal syndrome characterized primarily by severe skeletal abnormalities.
• Kosztolanyi syndrome: A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities.
• Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Kozlowski-Brown-Hardwick syndrome: A very rare syndrome characterized mainly by various skeletal anomalies, unusual facial appearance, eye abnormalities and communicating hydrocephaly.
• Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.
• Lamotrigine - Teratogenic Agent: There is evidence to indicate that exposure to Lamotrigine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Laron syndrome type 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron syndrome type 2: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Lathosterolosis: A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease.
• Lethal congenital contracture syndrome (LCCS): A rare inherited lethal disorder characterized by multiple congenital contractures. There are two main types caused by different genetic defects. Type 2 differs from type 1 in that it includes additional head, face and eye symptoms and hydrops, joint webbing and fractures were usually absent.
• Lethal congenital contracture syndrome 1: A rare inherited lethal disorder characterized by multiple congenital contractures. Type 1 occurs as a result of a genetic defect on chromosome 9q34.
• Limb deficiencies distal micrognathia: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
• Lissencephaly - immunodeficiency: A very rare syndrome characterized mainly by abnormal brain development and a poor immune system.
• Lissencephaly syndrome type 1: A very rare form of the brain formation disorder called lissencephaly where the brain surface is abnormally smooth rather than convoluted resulting in mental retardation. Physical malformations are also present.
• Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
• Loeys-Dietz syndrome: A very rare syndrome characterized mainly by a bulge in the aorta (aneurysm), wide set eyes, cleft palate, divided uvula and twisted arteries.
• Lop ears, Micrognathia and Conductive Hearing Loss: A very rare condition (described in only a few families) characterized by a small jaw, conductive hearing loss and abnormal ears.
• Lower limb anomaly - ureteral obstruction: A very rare syndrome characterized mainly by an obstructed ureter and a leg anomaly.
• Lowry-Maclean syndrome: A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones.
• Lumbar malsegmentation - short stature: A very rare syndrome characterized mainly by short stature and abnormal segmentation of the vertebrae in the abdominal segment of the spine.
• Lumbar malsegmentation, short stature and facial anomalies: A rare syndrome characterized by vertebral abnormalities, short stature and facial anomalies.
• Lymphangiectasies and lymphedema Hennekam type: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
• Lymphedema, congenital: A very disorder present from birth where the lymph system is obstructed. Often, other abnormalities are also present.
• Lymphoedema - lymphangiectasia - mental retardation: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
• MURCS Association: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• MacDermot-Winter syndrome: A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella).
• Malignant hyperthermia: A very rare genetic disorder where sufferers suffer episodes of adverse reactions when certain anesthetics or muscle relaxants are administered.
• Mandibuloacral dysplasia with type A lipodystrophy: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities in type B. The severity of the symptoms is variable.
• Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
• Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
• Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2): A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• McCune-Albright Syndrome: A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material.
• McGillivray syndrome: A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia.
• Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
• Meige syndrome: A neurological movement disorder involving symptoms such as involuntary facial movements and eye muscle spasms.
• Melnick-Needles syndrome: A rare genetic bone disorder characterized by skeletal abnormalities and characteristic facial abnormalities.
• Mental Retardation - Pterygia - Shortness - Distinctive Facial Appearance: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Mental retardation - blepharophimosis - obesity - web neck: A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.
• Mental retardation - short stature - heart and skeletal anomalies: A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies.
• Mental retardation - unusual facies - talipes - hand anomalies: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities.
• Mental retardation X-linked dysmorphism: A very rare syndrome characterized mainly by mental retardation, partially dislocated knees and teeth and facial abnormalities.
• Mental retardation, Smith-Fineman-Myers type: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone.
• Mental retardation, Wolff type: A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline.
• Mental retardation, X-linked with brachydactyly and macroglossia: A syndromic form of mental retardation which also involves short digits and an enlarged tongue. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked, Armfield type: A rare disorder characterized by mental retardation, seizures, short stature, small hands and small feet. The disorder is X-linked and hence only males exhibit the symptoms. The genetic defect occurs on chromosome Xq28.
• Mental retardation, autosomal recessive, 4: A rare form of recessively inherited mental retardation caused by a defect on chromosome 1p21.1-p13.3.
• Mephenytoin - Teratogenic Agent: There is evidence to indicate that exposure to Mephenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mesomelia radial hypoplasia bifid thumb unusual facies: A rare syndrome characterized mainly by skeletal abnormalities, dwarfism and hair, nail, skin and teeth abnormalities.
• Methotrexate - Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Metronidazole - Teratogenic Agent: There is evidence to indicate that exposure to Metronidazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Microcephalic osteodysplastic primordial dwarfism types 1 and 3: Microcephalic osteodysplastic primordial dwarfism types 1 and 3 were originally regarded as separate conditions but it was recently concluded that they were different expressions of the same condition. The main differences between the two forms is a difference in the radiological bone anomalies. The condition is characterized mainly by bone abnormalities, short stature and a small head.
• Microcephalic osteodysplastic primordial dwarfism, type 2: A very rare syndrome characterized mainly by
• Microcephaly - cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
• Microcephaly - deafness syndrome: A very rare syndrome characterized mainly by a small head and deafness.
• Microcephaly - hypergonadotropic hypogonadism - short stature: A very rare syndrome characterized mainly by a small head, short stature and hypogonadism.
• Microcephaly - mesobrachyphalangy - tracheoesophageal fistula syndrome: A very rare syndrome characterized by an abnormally small head, short fingers and an abnormal opening between the trachea and esophagus.
• Microcephaly - oculo-digito-esophageal-duodenal syndrome (MODED): A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities.
• Microcephaly immunodeficiency lymphoreticuloma: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
• Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
• Microphthalmia syndromic, type 6: A rare inherited syndrome characterized mainly by small eyes, malformed ears, small jaw and finger and genital abnormalities. The symptoms are variable to some degree.
• Miller-Dieker syndrome: A rare genetic disorder characterized by a smooth brain surface. The condition occurs because of deletion of genetic material from the short arm of chromosome 17 ath a particular location (17p13.3).
• Milner-Khallouf-Gibson syndrome: A rare recessively inherited genetic disorder characterized by a variety of symptoms which are typical of a condition called Fanconi's anemia.
• Mobius syndrome: Type of facial paralysis.
• Moebius sequence: A rare genetic disorder characterized by facial paralysis due to problems with 6th and 7th nerve development.
• Monosomy 8q21 q22: A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities.
• Montefiore syndrome: A very rare syndrome characterized mainly by skull, facial, heart and digital abnormalities.
• Mouth symptoms: Symptoms of the mouth or oral area.
• Mucoepidermoid: A mucoepidermoid is a type of cancer which is found primarily in the salivary glands (major and minor) but can be found in other glands such as the tear glands, breast gland and thyroid. The cancer develops from squamous, mucus-secreting and intermediate cells.
• Mucoepidermoid Carcinoma: A mucoepidermoid carcinoma is a type of cancer which is found primarily in the salivary glands (major and minor) but can be found in other glands such as the tear glands, breast gland and thyroid. The cancer develops from squamous, mucus-secreting and intermediate cells.
• Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
• Mucopolysaccharidosis type I Hurler/Scheie syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down.
• Mullerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• Multiple joint dislocations - metaphyseal dysplasia: A rare disorder characterized by multiple joint dislocations and abnormal bone development as well as various other anomalies.
• Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
• Multiple pterygium syndrome lethal type: A rare syndrome characterized by skin, muscle and skeletal anomalies and fetal death.
• Mumps: An acute viral disease that causes the salivary glands to become swollen, sore and inflamed. Immunization had greatly reduced the incidence of this disease.
• Myopathy with lactic acidosis and sideroblastic anemia: A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.
• Myopathy, congenital nonprogressive with Moebius and Robin sequences: A rare inherited disorder characterized by nonprogressive muscle weakness from birth as well as the Moebius (congenital facial palsy with impaired ability to move eyes) and Pierre Robin sequence (underdeveloped jaw, cleft soft palate, abnormal tongue position).
• N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
• Naguib syndrome: A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers.
• Narrow oral fissure - short stature - cone-shaped epiphyses: A very rare syndrome characterized mainly by narrow mouth opening, short stature and abnormal bone development.
• Nephroblastomatosis - fetal ascites - macrosomia - wilms tumor: A rare condition characterized by kidney abnormalities, macroxomia, endocrine pancreas abnormalities, large fetus and mental retardation.
• Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor: A rare condition characterized by kidney abnormalities, macroxomia, endocrine pancreas abnormalities, large fetus and mental retardation.
• Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
• Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
• Night blindness - skeletal anomalies - unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
• Nijmegen Breakage Syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
• Nodulosis-arthropathy-osteolysis syndrome: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Noonan syndrome 3: A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies.
• Oculo cerebro acral syndrome: A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities.
• Oculodigitoesophagoduodenal syndrome: A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities.
• Oculopalatoskeletal syndrome: A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
• Opitz G Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Opitz G/BBB Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Opitz G/BBB Syndrome, Type II: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: Type I inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
• Opitz G/BBB syndrome, Autosomal dominant: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
• Opitz syndrome: A rare genetic disorder characterized by wide-set eyes, hypospadias and swallowing difficulties.
• Opitz syndrome , X-linked: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
• Opthalmo acromelic syndrome: A very rare syndrome characterized mainly by missing eyes and limb anomalies.
• Oral cancer: Cancer (malignant) of the lip or inside the mouth.
• Oromandibular-limb hypogenesis spectrum: A rare disorder characterized by a spectrum of disorders.
• Oropharyngeal cancer, adult: Cancer of the back of the mouth which forms part of the throat including the back of the tongue, tonsils, part of the throat wall and soft palate (oropharynx).
• Osteogenesis imperfecta, type 2: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
• Osteogenesis imperfecta, type 2A: A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes.
• Osteogenesis imperfecta, type IIB: A rare, recessively inherited, lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIB has a different origin of the genetic mutation but the clinical features are similar. Type IIB involves a defect on the CRTAP gene on chromosome 3p22. The main difference is that type IIA tends to involve a small head and white or light blue eyes.
• Osteoglophonic dwarfism: A form of dwarfism characterized by premature fusion of skull bones, short limbs and digits, facial abnormalities and bone development anomalies.
• Osteosclerosis, abnormalities of nervous system and meninges: A very rare syndrome characterized mainly by increased bone density and nervous system abnormalities.
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
• Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
• PHACE association: A very rare syndrome characterized mainly by a brain malformation (involving the posterior fossa), large facial hemangioma and eye, heart and artery anomalies.
• Pallister Killian Mosaic Syndrome: Pallister Killian Mosaic Syndrome is a very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister Mosaic Syndrome Tetrasomy 12p: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister-Hall Syndrome: A rare genetic disorder characterized by hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and polydactyly.
• Partial Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of only part of chromosome 18 in the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of the whole of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved and how much of the chromosome is involved.
• Partial deletion of Y: A very rare genetic disorder where a portion of chromosome Y is missing resulting in various abnormalities. Symptoms vary from case to case.
• Patterson-Stevenson syndrome: A very rare syndrome characterized mainly by a missing fingers giving the hand a split appearance as well as jaw and face abnormalities.
• Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.
• Penicillamine, D - Teratogenic Agent: There is evidence to indicate that exposure to Penicillamine, D during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Penoscrotal transposition: A very rare malformation where the penis and scrotum completely or partially swap positions. Other abnormalities are also usually associated.
• Peptidic growth factors deficiency: A very rare syndrome characterized mainly by diabetes, skin abnormalities, small jaw and muscle contractures.
• Perinatal-lethal Gaucher disease: A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after.
• Periodic paralysis, potassium-sensitive, cardiodysrythmic type: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium. Periodic paralysis may start as early as infancy or during the second decade and is triggered by exercise, stress or prolonged periods of rest.
• Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy.
• Pfeiffer syndrome Type 2: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include craniofacial and cardiovascular malformations with death often occurring early.
• Pfeiffer syndrome Type 3: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include craniofacial abnormalities, cardiovascular malformations and early death is common.
• Phenytoin - Teratogenic Agent: There is evidence to indicate that exposure to Phenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Piepkorn karp hickoc syndrome: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Pierre Robin sequence - congenital heart defect - talipes: A very rare syndrome characterized mainly by an abnormal foot position (talipes), congenital heart defect small jaw, cleft soft palate and a tongue abnormality (glossoptosis).
• Pierre Robin sequence with pectus excavatum and rib and scapular anomalies: A rare syndrome characterized mainly by a sunken chest, Pierre Robin sequence and rib and shoulder blade abnormalities.
• Pierre Robin syndrome - fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
• Pierre Robin syndrome skeletal dysplasia polydactyly: A rare disorder characterized by the Pierre-Robin sequence (underdeveloped jaw, cleft soft palate and abnormal tongue location), extra fingers and skeletal abnormalities.
• Pierre-Robin syndrome with fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
• Pilo dento ungular dysplasia - microcephaly: A very rare syndrome characterized mainly by hair, tooth and nail abnormalities as well as a small head.
• Polydactyly cleft lip palate psychomotor retardation: A very rare syndrome described in a small inbred group of families and characterized by bifid toes, extra big fingers, cleft lip or palate and psychomotor retardation. There were various other symptoms that were variably present.
• Prednisone - Teratogenic Agent: There is evidence to indicate that exposure to Prednisone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Prinzmetal's variant angina: A rare disorder where the heart artery spasms which affects the blood flow to the heart and causes pain. The condition can occur with or without physical activity.
• Progressive spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. The severity of symptoms and survival varies depending on the particular form of the condition. Death can occur as early as infancy whereas some forms allow survival into adulthood.
• Pseudoaminopterin syndrome: A very rare condtion characterized by mental and physical retardation, skull abnormalities and skeletal defects. The symptoms observed are similar to those caused by aminopterin which was once used to induce abortions but in the pseudo form there is no evidence of exposure to aminopterin.
• Pseudopapilledema - blepharophimosis - hand anomalies: A very rare syndrome characterized mainly by malformations involving the hands, feet ears and face as well as deafness.
• Pseudoprogeria syndrome: A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation.
• Pseudotrisomy 13 syndrome: A very rare chromosomal disorder characterized mainly by abnormal forebrain development (holoprosencephaly), underdeveloped midface and extra fingers
• Pterygia - Mental retardation - Distinctive Craniofacial Features: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Pterygium syndrome, X-linked: A rare disorder involving skin, bone and muscle abnormalities with webbing in parts of the body such as the neck, elbows and back of legs.
• Rabies: An infectious disease that can affect any mammal including humans and is transmitted through the saliva of an infected animal. The infectious agent is the Neurotropic lyssavirus which affects the salivary gland and also causes neurological symptoms.
• Radial defect - Robin sequence: A very rare syndrome characterized mainly by abnormal forearm bone, club foot, finger and toe abnormalities and a cleft palate.
• Radio digito - facial dysplasia: A very rare syndrome characterized mainly by abnormalities of the arm bones and facial anomalies.
• Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
• Ramban-Hasharon syndrome: A rare disorder characterized primarily by psychomotor retardation, short stature and neutrophil abnormalities.
• Renal dysplasia - limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
• Renal-genital-middle ear anomalies: A very rare syndrome characterized mainly by kidney, genital and middle ear abnormalities.
• Retinis pigmentosa - deafness - hypogenitalism: A very rare syndrome characterized mainly by progressive retinal damage, deafness and genital anomalies.
• Rhizomelic syndrome: A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood.
• Richieri-Costa-Silveira-Pereira syndrome: A very rare syndrome characterized mainly by short stature, hand anomaly, clubfoot a cleft palate and various other abnormalities.
• Rieger anomaly - partial lipodystrophy: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay. Additional symptoms are also variably present.
• Ring D2 chromosome: A rare chromosomal disorder where a portion of chromosome 2 is deleted and the two ends rejoin to form a ring. The condition results in the absence of thumbs, mental and physical retardation, toe and head abnormalities and distinctive facial features.
• Roberts-SC Phocomelia: A rare genetic disorder characterized by limb deformities, midfacial defects and severe growth deficiency.
• Robin sequence and oligodactyly: A very rare syndrome characterized mainly by missing fingers, small jaw, tonge anomaly and a cleft palate.
• Robin sequence oligodactyly: A very rare syndrome characterized mainly by missing fingers, small jaw, tongue anomaly and a cleft palate.
• Robinow syndrome, autosomal recessive: A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia.
• Robinow syndrome, recessive form: A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and underdeveloped genitals.
• Rommen-Mueller-Sybert syndrome: A very rare syndrome characterized mainly by heart defects, short stature and craniofacial anomalies.
• Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
• Ruvalcaba syndrome: A very rare disorder characterized by short stature, skeletal abnormalities, mental retardation and distinctive facial features.
• SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
• Saito-Kuba-Tsuruta syndrome: A very rare syndrome characterized by kidney abnormalities and an abnormal calf bone or forearm bone (ulna). Only a few cases of the syndrome have been reported.
• Salivary gland cancer, adult: Cancer of the salivary glands in adults. Salivary glands are glands that produce saliva to facilitate the process of chewing, swallowing and digesting food.
• Sanderson-Fraser syndrome: A very rare syndrome characterized by overlapping fingers, abnormally placed urethral opening in males, protruding eyes and Robin association (small jaw and downward displaced tongue).
• Saul-Wilkes-Stevenson syndrome: A very rare syndrome characterized mainly by muscle problems, abnormal skin pigmentation, movement disorder, mental retardation and scoliosis.
• Say-Barber-Miller syndrome: A very rare syndrome characterized mainly by immune system problems and a small head.
• Say-Carpenter syndrome: A very rare syndrome characterized mainly by wide set eyes, abnormally placed urethral opening in males and abnormal bone development.
• Schofer beetz bohl syndrome: A rare syndrome characterized mainly by brain calcification, mental retardation, short stature, diabetes insipidus and unusual facial appearance.
• Schweitzer kemink malcolm syndrome: A rare syndrome characterized by the association of conductive deafness with a small jaw.
• Sclerosing bone dysplasia - mental retardation: A rare disorder characterized by abnormal hardening (sclerosis) of the bone and mental retardation.
• Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
• Scott syndrome: A very rare inherited syndrome characterized by head and digital abnormalities as well as mental retardation.
• Seckel-like syndrome, Majoor-Krakauer type: A very rare syndrome characterized by numerous abnormalities including poor fetal growth, reduced amniotic fluid and heart, brain spleen and kidney anomalies.
• Seckle syndrome: A rare genetic disorder characterized by short stature, microcephaly and a prominent nose.
• Serpentine fibula - polycystic kidney syndrome: A very rare syndrome characterized mainly by unusual s-shaped calf bone (fibula) as well as the development of numerous cysts in the kidneys.
• Short ribs - craniosynostosis - polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Short stature - Robin sequence - cleft mandible - hand anomalies - clubfoot: A very rare syndrome characterized mainly by short stature, a cleft in the lower jaw, hand anomalies, club foot and mouth abnormalities (Robin sequence).
• Short stature - contractures - hypotonia: A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures.
• Short stature - craniofacial anomalies - genital hypoplasia: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Short stature cranial hyperostosis hepatomegaly diabetes: A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull.
• Short stature, cranial hyperostosis, hepatomegaly and diabetes: A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull.
• Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
• Sickle cell crisis: A condition which is characterized by either a hemolytic crisis or vaso-occlusive crisis
• Silver-Russell dwarfism: A very rare growth disorder characterized by very small stature (dwarfism), skeletal asymmetry and small incurved fifth finger.
• Simpson-Golabi-Behmel syndrome, type 1 (SGBS1): A rare genetic disorder characterized by accelerated growth, a peculiar face and other defects.
• Sinusitis: Inflammation of the sinus passages (as a symptom)
• Sjogren's Syndrome: Autoimmune disease damaging the eye tear ducts and other glands.
• Skeletal dysplasia - orofacial anomalies: A very rare disorder characterized mainly by face, mouth and skeletal abnormalities.
• Skeletal dysplasia, San Diego type: A very rare disorder characterized mainly by short limbs and flattened spinal vertebrae. Infants are stillborn or die soon after birth.
• Smith-Fineman-Myers syndrome 1: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone. The genetic defect occurs on chromosome Xq13.
• Smith-Fineman-Myers syndrome 2: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone. The genetic defect occurs on chromosome Xq23.
• Smith-Lemli-Opitz Syndrome: A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol.
• Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
• Splenogonadal fusion, limb defects, micrognathia: A rare genetic condition characterized mainly by a small jaw, limb defects and fusion of the spleen to the gonads. Most patients die around the age of birth but some do survive into childhood.
• Spondyloepimetaphyseal dysplasia with joint laxity: A rare skeletal disorder where the spine and long bones grow and develop abnormally. Loose joints and severe curvature of the spine is also present. The condition is severe and death in the first couple of decades is common.
• Sternal cyst - vascular anomalies: A rare disorder involving blood vessel anomalies and a cyst in the sternum.
• Sternal malformation vascular dysplasia association: A rare disorder characterized by a cleft of the sternum and facial hemangiomata.
• Stoll-Alembik-Finck syndrome: A very rare syndrome characterized mainly by muscle, skin, sweating, tooth and facial abnormalities.
• Stratton-Parker syndrome: A very rare syndrome characterized by short stature, heart positioned on the wrong side of the chest (dextrocardia) and a bone development anomaly.
• Stuve-Wiedemann dysplasia: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Stuve-Wiedemann syndrome: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Supraglottic laryngeal cancer: Cancer that arises in the tissue above the vocal cords.
• Syndactyly type 1 - microcephaly - mental retardation: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Syndromic Dystelephalangy: A rare syndrome characterized by bowed end bones of digits, facial anomalies and various other symptoms.
• TMJ Syndrome: Disorder of the jaw joint
• Teebi-Shaltout syndrome: A very rare syndrome characterized by various facial and head abnormalities.
• Teeth grinding: Grinding teeth when asleep
• Temporal arteritis: Inflamed head artery causing headache.
• Temporo-mandibular ankylosis: A disorder involving stiffness or fusion of the jaw joint which affects the ability of the jaw to open and close normally. The condition may occur congenitally or may be acquired through such things as trauma.
• Temtamy preaxial brachydactyly syndrome: A rare syndrome characterized by mental retardation, deafness, retarded growth, finger abnormalities and various other anomalies.
• Temtamy syndrome: A rare disorder characterized by a brain abnormality, unusual facial appearance and eye coloboma.
• Tetanus: A disease caused by chemicals which are produced by a bacterium (clostridium tetani) and are toxic to the nerves. The infection usually occurs when the bacteria enter the body through a deep wound - these bacteria are anaerobic and hence don't need oxygen to survive.
• Tetra-Amelia, Autosomal Recessive: A recessively inherited malformation syndrome characterized by absence of all four limbs. Various other malformations were also present.
• Tetraamelia with pulmonary hypoplasia: A very rare syndrome characterized mainly by the absence of arms and legs and abnormal lung development.
• Tetraploidy: A very rare chromosomal disorder which results in various abnormalities. Infants are usually stillborn or die within months of birth.
• Thieffry and Sorrell Dejerine syndrome: A rare inherited syndrome characterized by kidney problems and progressive destruction of the wrist and ankle bones which may spread to adjoining bones.
• Thiele syndrome: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance and a small head.
• Thomas-Jewett-Raines syndrome: A very rare syndrome characterized mainly by small eyes, small ears and a lack of fetal movement.
• Thrombocytopenia - Robin sequence: A very rare syndrome characterized by a variety of abnormalities such as short stature, unusual hair, reduced blood platelets, heart defects and tooth enamel anomaly.
• Tingling: Tingling, prickling, or pins-and-needles sensations
• Tonsilitis: Inflammation of the tonsils in the throat.
• Toothache: Ache or pain affecting a tooth
• Tricho odonto onycho dermal syndrome: A very rare syndrome characterized by hair, tooth, nail and skin abnormalities.
• Trichorhinophalangeal syndrome type 1: A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses.
• Trigeminal neuralgia: Trigeminal neuralgia is a very painful inflammation of the nerve (trigeminal nerve) that delivers sensations to the face and "surface" of the eye.
• Trigonocephaly - bifid nose - acral anomalies: A rare syndrome characterized mainly by a prominent triangular shaped forehead, short head, bulbous nose, small jaw, large mouth, poor muscle tone and foot abnormalities.
• Trigonocephaly - ptosis - coloboma: A rare syndrome characterized by droopy eyelids, brain malformation, a triangular shaped prominent forehead and an eye abnormality.
• Triploid syndrome: A complete extra set of chromosomes.
• Trisomy 14 Mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
• Trisomy 14 Mosaicism Syndrome: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary considerably between patients depending on how many of the body's cells have the extra genetic material.
• Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
• Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
• Trisomy 6: A rare chromosomal disorder involving the duplication of chromosome 6 which results in variable symptoms including mental retardation, retarded growth, facial anomalies and various other abnormalities. Full Trisomy 6 is results in spontaneous abortion whereas various degrees of Trisomy 6q can result in syndromes of variable severity depending on the size of the duplication.
• Trisomy 6 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 6 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 8 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Tsao-Ellingson syndrome: A very rare syndrome characterized mainly by spasms during infancy and broad thumbs.
• Type II Achondrogenesis-Hypochondrogenesis: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Unusual facies, mental retardation, short stature, hemolytic anemia and delayed puberty: A rare syndrome characterized mainly by an unusual facial appearance, mental retardation, short stature, hemolytic anemia and delayed puberty.
• Unusual facies, osteosarcoma and malformation syndrome: A rare syndrome characterized mainly by an unusual facial appearance, osteosarcoma, hearing problems and other variable abnormalities.
• Urophathy distal obstructive polydactyly: A rare syndrome characterized by extra digits and an obstructive urinary system disorder.
• VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
• Valproic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Valproic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Valproic acid antenatal infection: A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures
• WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
• Waardenburg syndrome type 2: A hereditary, autosomal dominant disorder.
• Waardenburg syndrome types I: A rare genetic disorder characterized by lateral displacement of medial canthi, partial albinism and deafness.
• Wagner-Stickler Syndrome: There is confusion about whether Wagner and Stickler disease are actually extremes of the same disorder and thus the term Wagner-Stickler syndrome is sometimes used. Both conditions involve varying degrees of degeneration of eye structures with Stickler syndrome also involving other variable symptoms such as deafness and facial, oral and skeletal abnormalities.
• Walker-Warburg Syndrome: A rare inherited disorder characterized by brain malformations and retinal and muscle abnormalities.
• Warthin's tumor: A tumor of the parotid salivary glands.
• Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
• Weaver like syndrome: A rare genetic syndrome characterized by a large mouth, unusual facial features, skeletal anomalies and other abnormalities. The disorder is similar to another genetic disorder called Weaver syndrome but tends to involve endocrinologic abnormalities as well.
• Whiplash Injuries: An injury to the neck when the neck is rapidly forced backward and then forwards or vice versa. It most commonly occurs in vehicle accidents when the vehicle is stopped abruptly or pushed forwards suddenly.
• White matter hypoplasia corpus callosum agenesia mental retardation: A rare disorder characterized by abnormal brain development and mental retardation.
• Wildervanck syndrome 2: A syndrome characterized by mental retardation from birth, short stature, eye problems and various other abnormalities.
• Wilms tumor - aniridia - genitourinary anomalies - mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.
• Worth syndrome: A rare genetic disorder characterized by benign bony areas on the palate and thickening of various long bones.
• Yunis Varon syndrome: A multisystem genetic disease that affects the skeletal system in particular
• Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.

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