Glossary for Scoliosis

• $1q terminal deletion$: A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities.
• $3-M Syndrome$: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
• $3C syndrome$: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
• $3q deletion$: 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.
• $4p16.3 deletion$: 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.
• AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
• Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
• Acrodysplasia scoliosis: A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies.
• 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.
• Acromesomelic dysplasia Hunter Thompson type: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones.
• Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
• Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
• Acute Appendicitis: Infection of the appendix
• Adolescent idiopathic scoliosis: A condition which occurs to an adolescent without any known cause resulting in scoliosis of the spine
• Agenesis of the corpus callosum: Congenital absence of connective part of the brain.
• Agenesis of the corpus callosum - mental retardation - coloboma - micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
• Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
• Akesson syndrome: A very rare syndrome characterized by excessive skin folds and furrows on the scalp, mental retardation the failure of the thyroid to develop.
• Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
• Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
• Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
• Amnion rupture sequence: A rare disorder where the amniotic sac is ruptured resulting in various abnormalities.
• 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.
• Anophthalmia - megalocornea - cardiopathy - skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
• Anophthalmia with pulmonary hypoplasia: A rare disorder characterized by absent or very small eyes and underdeveloped lung tissue.
• Anotia: The absence of the outer visible part of one or both ears at birth
• Anotia - facial palsy - cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
• Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
• Arthritis: General name for any type of joint inflammation, but often means age-related osteoarthritis.
• Arthritis - short stature - deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
• Arthrogryposis - severe scoliosis: A rare disorder characterized by severe scoliosis and permanent flexion of muscles in the ends of the limbs. Other variable features may alsobe present.
• Arthrogryposis due to muscular dystrophy: A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth.
• 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 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
• Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
• Arthropathy, progressive pseudorheumatoid, of childhood: A form of progressive rheumatoid arthritis that affects children.
• Ashley syndrome: A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities.
• Asymmetric short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
• Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
• Aural atresia - multiple congenital anomalies - mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
• Ausems Wittebol-Post Hennekam syndrome: A very rare syndrome characterized by the association of a cleft lip with retinal problems.
• Bannayan-Zonana syndrome: A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths.
• Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
• Bartenwerfer syndrome: A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease.
• Battaglia Neri syndrome: A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies. Only two reported cases of this syndrome.
• Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
• Becker nevus syndrome: A rare disorder characterized by a pigmented hairy skin patch associated with skin, muscle or bone defects on the same side of the body as the skin lesion.
• Bentham-Driessen-Hanveld syndrome: A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation.
• Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
• Bone conditions: Conditions that affect the bones
• Brachydactyly - small stature - face anomalies: A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies.
• Brachydactyly - tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
• Bruck syndrome: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin.
• CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
• Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
• Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
• Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
• Camptodactyly, tall stature, and hearing loss syndrome: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
• Camurati-Engelmann Disease: A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain.
• Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.
• 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.
• Cerebellar ataxia, X-linked: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary.
• Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
• Cerebelloparenchymal autosomal recessive disorder 3: A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems.
• Cerebral Palsy: Any brain disorder causing movement disability
• Ceroid lipofuscinosis, neuronal 3, Juvenile: A progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapication within years and death within 10-15 years.
• Charcot-Marie-Tooth disease, Type 4C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the KIAA1985 gene on chromosome 5. It involves motor and sensory problems as well as scoliosis.
• Charcot-Marie-Tooth disease, Type 4F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4F has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect in the PRX gene on Chromosome 19q13.
• Charcot-Marie-Tooth disease, Type 4H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4H has an autosomal recessive form of inheritance and involves a defect on Chromosome 11.
• Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
• Charcot-Marie-Tooth, demyelinating, autosomal recessive: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritance and is a severe form of the disease.
• Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
• Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
• Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
• Chromosome 1, Terminal deletion: A genetic disorder where a portion of the genetic material from the long arm of chromosome 1 is missing. The symptoms or severity may vary somewhat between patients.
• 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 10pter p13: A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes.
• 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 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 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
• Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 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 15, distal trisomy 15q: A very rare chromosomal disorder where the end part of the long arm (q) of chromosome 15 occurs three times in each cell instead of two. Symptoms and severity depend on the size of the chromosomal portion that is duplicated.
• 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, 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 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 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 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 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
• Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
• Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 20, deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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 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 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
• 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 22q11 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
• Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
• 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, 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 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 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
• 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, 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 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 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, 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, 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 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 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, 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 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 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) 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 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 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) 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 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
• Chromosomes 1 and 2, monosomy 2q duplication 1p: A very rare chromosomal disorder where a portion of chromosome 2q shifts to chromosome 1p resulting in duplication of chromosome 1p and deletion of chromosome 2q. The defect results in various abnormalities including retarded fetal growth, small head and skeletal and facial defects.
• Cleft lip - palate - abnormal thumbs - microcephaly: A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate.
• Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
• Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Combarros Calleja Leno syndrome: A rare disorder characterized by the association of glaucoma at birth with a form of ataxia.
• Congenital Gigantism with Skeletal Dysplasia: A rare syndrome characterized mainly by the association of a large size at birth with various skeletal anomalies.
• Congenital Muscular Dystrophy: Muscle weakness and wasting that starts at birth or around the time of birth. The severity and extent of muscle involvement is greatly variable.
• Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
• Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
• Congenital fiber type disproportion: A rare inherited disease involving abnormalities in the growth of type I muscle fibers.
• Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Cortada Koussef Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
• Cortada-Kousseff-Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
• Coumarin Derivatives - Teratogenic Agent: There is evidence to indicate that exposure to Coumarin Derivatives 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.
• Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
• Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
• 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.
• Cutis laxa, recessive type 2: A very rare syndrome characterized primarily by loose skin and delayed development.
• Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webvbed fingers and toes and abnormal spinal development.
• Daish-Hardman-Lamont syndrome: A very rare syndrome characterized mainly by loose joints, tall stature and buildup of fluid inside the skull.
• Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
• Deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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 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.
• 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.
• Diastrophic dysplasia: A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities.
• Dicoumarol - Teratogenic Agent: There is evidence to indicate that exposure to Dicoumarol 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.
• Dicumarol - Teratogenic Agent: There is evidence to indicate that exposure to Dicumarol 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.
• Diphenadione - Teratogenic Agent: There is evidence to indicate that exposure to Diphenadione 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.
• 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.
• Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
• Dup(1) (q11-q25) mosaicism: A very rare chromosomal disorder where a portion of the long arm (q11-q25) of chromosome one is duplicated in some of the body's cells.
• Duplication 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• 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 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.
• Dyggve-Melchior-Clausen Syndrome: A rare genetic bone growth disorder characterized by short stature and other skeletal deformities.
• Dyserythropoietic anemia, congenital type 1: A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present.
• Dysostosis: Defective bone development. It can result in missing bones, extra bone, shortened bones or other bone abnormalities. Further symptoms depend on the type of abnormality.
• Ectodermal dysplasia: A group of rare inherited conditions which affect the ectodermal skin layer which includes the skin, hair, teeth and nails.
• Ectodermal dysplasia - neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
• Ehlers-Danlos syndrome: A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group.
• Ehlers-Danlos syndrome type VI: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities.
• Ehlers-Danlos syndrome with periventricular heterotopia: The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome.
• Ehlers-Danlos syndrome, 6B: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.
• Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
• 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.
• Emerinopathy: A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting.
• Emery-Dreifuss muscular dystrophy, X-linked: A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms.
• Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
• Epilepsy: Brain condition causing seizures or spasms.
• Epilepsy - microcephaly - skeletal dysplasia: A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities.
• Epileptic encephalopathy, early infantile, 2: A genetic form of epilepsy which is severe and starts during infancy. The condition is considered an atypical form of Rett syndrome due to the development of stereotypical hand movements and repetitive behaviors. This form of the condition is caused by a defect on the CDKL5 gene.
• Epiphyseal dysplasia - hearing loss - dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.
• FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
• Facio-cardio-musculo-skeletal syndrome: A rare syndrome characterized by facial, heart, muscle and skeletal abnormalities.
• Facioskeletalgenital syndrome, Rippberger type: A rare syndrome characterized by facial, skeletal and genital abnormalities.
• Femoral facial syndrome: A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.
• Fibrodysplasia Ossificans Progressiva: A rare genetic connective tissue disorder characterized by a short toe, fibrous dysplasia and bone formation in muscles, ligaments, tendons and soft connective tissue.
• Fibrous dysplasia of bone: A bone development abnormality that can occur in one or more bones. The bone develops tumor-like growths in bones where normal bone is replaced by fibrous tissue. It can occur as a single lesion or in multiples. Malignancy can occur but is rare. Symptoms are determined by the location and extent of the abnormality.
• Focal dermal hypoplasia: A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk ant extremities.
• Franceschini-Vardeu-Guala syndrome: A very rare disorder characterized by premature puberty, lower lip pits and Kabuki syndrome. Kabuki syndrome is a mental retardation syndrome which also involves a range of physical abnormalities.
• Fried syndrome: A rare syndrome characterized mainly by mental retardation, buildup of fluid inside the skull and an unusual facial appearance. The disorder is inherted in a X-linked manner.
• Friedreich ataxia: A progressive inherited neuromuscular disorder involving slow degeneration of the spinal cord and brain.
• Friedreich ataxia - congenital glaucoma: A rare disorder characterized by glaucoma at birth and a progressive neuromuscular disorder.
• Friedreich's ataxia: Progressive muscle weakness from nerve damage.
• Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
• Fryns macrocephaly: A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance.
• 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.
• Gangliosidosis, generalized GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
• Gaucher disease type 3: 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 3 is a subacute neurological form which often first appears in childhood.
• Geroderma osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplastica hereditaria: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplasticum: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gigantism partial - nevi - hemihypertrophy - macrocephaly: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
• Gloomy syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
• Glycogen storage disease type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down.
• Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.
• Gurrieri-Sammito-Bellussi syndrome: A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities.
• Hemi 3 syndrome: A very rare syndrome where parts of the body undergo excessive growth give the body an asymmetrical appearance.
• Hemihypertrophy in context of NF: Enlargement of one side of the body that frequently occurs in sufferers of neurofibromatosis.
• Hereditary peripheral nervous disorder: A group of inherited disorders affecting the peripheral nerves (nerves other than the brain and spinal cord). The motor, sensory and/or autonomic nerves may be affected. Examples of such conditions includes Dejerine-Sottas disease and Charcot-Marie-Tooth disease.
• Herrmann Opitz arthrogryposis syndrome: A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature.
• 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.
• Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
• Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
• Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
• Hydrocephalus - costovertebral dysplasia - Sprengel anomaly: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
• Hypertrophic neuropathy of Dejerine-Sottas: An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in numbness, muscle weakness and loss of function. The severity of the condition is variable.
• Hypomelanosis of Ito: A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities.
• Hypoplastic thumb - mullerian aplasia: A rare disorder characterized by an underdeveloped thumb, vertebral abnormalities and abnormal development or lack of a part of the female reproductive system (uterus, cervix and upper vagina). The external genitalia appear normal and the ovaries usually function normally.
• Idiopathic adolescent scoliosis: Spinal curvature that occurs in adolescents for no apparent reason.
• Infection: Infections as a symptom.
• Intracranial aneurysms - multiple congenital anomaly: A very rare syndrome characterized mainly by brain aneurysms (dilated blood vessel) and various other abnormalities.
• Jaffe-Lichtenstein syndrome: A rare genetic bone disorder characterized by benign bone growths which can cause painful swellings and bone deformities and makes bone prone to fractures.
• Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
• Jarcho-Levin Syndrome: A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.
• Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
• Kennerknecht-Sorgo-Oberhoffer syndrome: A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart.
• Klippel Feil Syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• Klippel-Feil syndrome recessive type: A rare recessively inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• Klippel-Feil syndrome, dominant type: A rare dominantly inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• 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.
• Kyphosis: Outward curvature of the spine at the back causing hunching or Dowager's hump
• Larsen syndrome: A rare genetic disorder characterized by multiple joint dislocation, a flat face and short fingernails.
• Larsen-like osseous dysplasia - dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
• Lateral body wall complex: A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth.
• Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
• Leukodystrophy: A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptoms is determined by the chemical involved but one of the main symptoms for all the leukodystrophies is a gradual loss of previously acquired mental or physical skills.
• 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.
• Lockwood-Feingold syndrome: A rare genetic disorder characterized mainly by arthritis, skeletal abnormalities and a lack of subcutaneous fat.
• 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.
• Lordosis: Spinal curvature forward in the lower back
• Lujan-Fryns syndrome: A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome).
• Maffucci Syndrome: A rare genetic disorder characterized by benign cartilage overgrowths, skeletal deformities and dark red irregular skin patches.
• Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
• Marfan Syndrome type 2: A very rare syndrome characterized by some of the skeletal and heart blood vessel abnormalities seen in Marfan syndrome but there are no eye abnormalities. The genetic cause of the two types is different.
• Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
• Marfan-Like syndrome: Any congenital condition with a group of symptoms that resembles Marfan syndrome but doesn't quite fulfill all the criteria. Marfan syndrome is a connective tissue disorder that affects the skeleton, lungs, eyes, heart and blood vessels.
• Marinesco-Sjogren syndrome: A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly.
• Mastocytosis - short stature - hearing loss: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
• 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.
• McKusick type metaphyseal chondrodysplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
• Mental retardation - arachnodactyly - hypotonia - telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
• Mental retardation - dysmorphism - hypogonadism - diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
• 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 - short stature - scoliosis: A very rare syndrome characterized mainly by mental retardation, short stature and scoliosis.
• Mental retardation - skeletal dysplasia - abducens palsy: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and weakness of an eye muscle.
• Mental retardation athetosis microphthalmia: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
• 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, Reish type: A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing problems. 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, Vitale type: A rare disorder characterized by mental retardation and facial and skeletal anomalies. 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. The genetic defect occurs on chromosome Xq24.
• Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
• Metatropic dwarfism: A rare genetic disorder characterized by extremely small stature, short limbs and skeletal abnormalities.
• Michels-Caskey syndrome: A very rare disorder characterized by underdeveloped thumbs, spine deformities and lack of development of the female reproductive organs such as the uterus and vagina (mullerian duct aplasia). The external genitalia may appear to be normal.
• Micrencephaly corpus callosum agenesis: A very rare disorder characterized by abnormal brain development which results in a very small brain. Patients may die during infancy and survivors suffer mental retardation and other physical abnormalities.
• Microbrachycephaly - ptosis - cleft lip: A very rare syndrome characterized mainly by a small, short head, droopy eyelids and a cleft lip.
• Microcephaly brachydactyly kyphoscoliosis: A very rare syndrome characterized by the association of profound mental retardation, a small head, short digits and a curved spine.
• Microsomia - hemifacial - radial defects: A very rare syndrome characterized mainly by a wide range of defects involving the face, ear, mouth, vertebrae and radial bones.
• Minicore disease: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
• Minicore myopathy with external ophthalmoplegia: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The ophthalmoplegic form is distinguished by the presence of eye muscle weakness. The severity of symptoms is variable.
• Minicore myopathy, moderate, with hand involvement: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The progressive form with hand involvement is less severe than the classic form with breathing problems and scoliosis usually absent or mild. It is distinguished by the presence of hyperlaxity. The severity of symptoms is variable.
• Monosomy 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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.
• Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate - type A, ? galactosidase - type B) needed to break it down. The symptoms are variable with type A and B being clinically indistinguishable.
• Morquio syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate) needed to break it down.
• Morquio syndrome, type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.
• Multicore disease: A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable.
• Multiminicore disease (MmD): A rare congenital muscle disorder involving weakness and wasting of skeletal muscles. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
• Multiple endocrine neoplasia type 2b: A rare genetic disorder characterized by multiple tongue neuromas and medullary thyroid carcinoma.
• 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, autosomal recessive: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
• Muscle spasm: A muscle spasm is a sudden, involuntary contraction of a muscle, a group of muscles, or a hollow organ, or a similarly sudden contraction of an orifice.
• Muscular Dystrophy: Any of various muscle wasting diseases
• Muscular dystrophy, Duchenne and Becker type: An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed in males but females can be carriers.
• Muscular dystrophy, congenital, merosin-positive: A very rare group of diseases that involves early infantile onset of muscle weakness, loss of muscle tone and contractures.
• Muscular dystrophy, limb-girdle, autosomal recessive, type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Myasthenic syndrome, congenital, slow-channel: A rare disorder involving progressive muscle wasting and weakness of variable severity depending on the exact origin of the genetic defect. The problem arises from defective processes at the junction of nerve and muscle cells.
• Myopathy congenital multicore with external ophthalmoplegia: A rare disorder characterized by muscle weakness and as well as weakness or paralysis of the external eye muscles. Severity of symptoms are variable.
• 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, X-linked with postural muscle atrophy: An inherited, adult-onset muscle disease where the postural muscles become progressively weak and wasted while other muscles become enlarged. During early adulthood, patients tend to have an athletic build and muscle symptoms tend to start during the fourth decade of life. Death usually occurred between the ages of 40 and 75 years of age due to involvement of the heart.
• 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).
• Nail-Patella Syndrome: A rare inherited disorder characterized by small or absent kneecap and ridged and/or absent nails as well as other abnormalities
• Native American myopathy: A rare genetic disorder characterized by muscle disease from birth, cleft palate and malignant hyperthermia.
• Navajo neurohepatopathy: A rare genetic disease found in Navajo populations. It involves peripheral nerve degeneration, liver disease and corneal ulcers. The genetic disease is believed to be caused by maternal exposure to uranium from waters contaminated by old mines.
• Nemaline myopathy 4: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 4 is caused by a defect on the tropomyosin 2 gene on chromosome 9p13.
• Nemaline myopathy 7: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 7 is caused by a defect on the cofilin-2 gene.
• Neurofibromatosis: Nerve disorders often leading to tumors on nerves.
• Neurofibromatosis Type 1 (NF-1): Neurofibromatosis Type 1 is a genetic disorder often leading to the development of nerve tumors. The condition is also characterized by skin pigmentation abnormalities.
• Neurofibromatosis syndrome: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many non-cancerous nerve and skin tumors some of which may eventually become malignant.
• Neurofibromatosis syndrome Type II: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation, acoustic neuromas and the development of many noncancerous nerve and skin tumors some of which may eventually become malignant - it is a more severe form of type I neurofibromatosis.
• Neurofibromatosis-2: Genetic disorder often leading to tumors on nerves.
• Neuronal intranuclear inclusion disease: A very rare syndrome characterized mainly by muscle and nerve degeneration.
• Nevoid basal cell carcinoma syndrome: A rare genetic disorder characterized by basal cell carcinomas, broade face and rib abnormalities.
• Nicoumalone - Teratogenic Agent: There is evidence to indicate that exposure to Nicoumalone 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.
• Night blindness: Poor vision in darkness or dim light
• Night blindness - skeletal anomalies - unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
• Occult spinal dysraphism: A rare disorder characterized by progressive neurological deterioration due to compression of the spinal cord in the spine.
• Oculomelic amyoplasia: A rare genetic disorder characterized by limb contractures (tightening of muscles which limits movement) from birth and eye abnormalities.
• Omphalocele - exstrophy - imperforate anus: A very rare syndrome characterized mainly by the absence of an anal opening, spine defects and omphalocele (abdominal organ protruding from the belly button).
• Opthalmoplegia progressive external scoliosis: A rare disorder characterized by progressive weakening of external eye muscles and scoliosis.
• Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
• Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
• Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
• Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
• Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
• Osteogenesis imperfecta, type 6: A rare form of the genetic connective tissue disorder characterized by fragile bones and light-colored eyes. There are a number of types of osteogenesis imperfecta and type 6 is considered a moderate to severe form.
• Osteoporosis: Bone thinning and weakening from bone calcium depletion.
• 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 1: A rare genetic disorder characterized by deafness, cleft palate, broad fingers and toes and short nails.
• Parastremmatic dwarfism: A rare disorder characterized by severe dwarfism, kyphoscoliosis, contractures of the large joints and twisted and bowed limb bones.
• 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.
• 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.
• Peripheral neuropathy: Peripheral neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of the nerve or from the side-effects of systemic illness.
• Phenindione - Teratogenic Agent: There is evidence to indicate that exposure to Phenindione 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.
• Phenprocoumon - Teratogenic Agent: There is evidence to indicate that exposure to Phenprocoumon 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.
• Pilo dento ungular dysplasia - microcephaly: A very rare syndrome characterized mainly by hair, tooth and nail abnormalities as well as a small head.
• Pilotto syndrome: A very rare syndrome characterized mainly by congenital heart disease, cleft lip and palate, scoliosis, short stature and mental retardation.
• Polio: Dangerous virus now rare due to vaccination.
• Posterior column ataxia with retinitis pigmentosa: A very rare syndrome characterized mainly by progressive ataxia and eye degeneration resulting in blindness by the third decade as well as muscle problems.
• Prader-Willi syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet.
• Proteus Syndrome: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
• Proud-Levine-Carpenter syndrome: A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities.
• Pseudoachondroplasia: A rare genetic disorder characterized by bone growth and development abnormalities.
• Pseudoxanthoma elasticum, forme fruste: An inherited systemic disease of connective tissue involving progressive calcification and degeneration of elastic fibers throughout the body, including the skin, eyes and cardiovascular system.
• Pulmonary fibrosis: A scarring condition that affects the lungs
• Pycnodysostosis: A rare inherited biochemical disorder involving an enzyme (cathepsin k) deficiency which impairs the processes needed to maintain healthy bones.
• Quattrin mcpherson syndrome: A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance.
• Renal rickets: A bone disease where kidney dysfunction causes bone resorption and results in weak, soft bones.
• Retinopathy pigmentary - intellectual deficit: A rare syndrome characterized by eye disease and mental retardation.
• Retinopathy pigmentary mental retardation: A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation.
• Retinopathy, pigmentary and mental retardation: A rare syndrome characterized by eye disease and mental retardation.
• Rhizomelic chondrodysplasia punctata, type 1: A rare genetic disorder involving abnormal development of bones which causes abnormal calcification of bones near the joints. The genetic defect is located on chromosome 6q22-q24.
• Rhizomelic chondrodysplasia punctata, type 3: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (alkyldihydroxyacetonephosphate synthase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 2q31.
• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa: A very rare syndrome characterized by an eye disorder, scoliosis and other skeletal abnormalities.
• Richieri-Costa Da Silva syndrome: A very rare syndrome characterized mainly by mental retardation, skeletal anomalies and delayed muscle relaxation.
• 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.
• Robinson syndrome: A very rare condition observed in a West Coast Indian family. The condition is characterized by scoliosis, hearing impairment, ataxia and sensory loss. The severity, rate of progression and age of onset of the neuropathic symptoms was highly variable. Sensory symptoms tend to be most prominent in the hands and feet.
• Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
• Sandhaus Ben-Ami syndrome: A rare disorder characterized by an underdeveloped kneecap and other skeletal abnormalities.
• 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.
• Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
• Sciatica: Sciatica is a set of symptoms including pain that may be caused by general compression and/or irritation of one of five nerve roots that give rise to the sciatic nerve, or by compression or irritation of the sciatic nerve itself.
• Scoliosis as part of NF: Spinal curvature associated with a condition called neurofibromatosis. Roughly a quarter of patients with neurofibromatosis will develop scoliosis. Neurofibromatosis is a rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many benign nerve and skin tumors. The scoliosis may become severe enough to affect heart and lung function or may be relatively mild.
• Scoliosis with unilateral unsegmented bar: Abnormal spinal development where two or more vertebrae fail to separate on one side of the spine which causes the spine to curve. Thus several vertebrae are fused on one side of the spine. As the individual grows, the spine becomes increasingly curved to the point where lung and heart function may be affected.
• Seckle syndrome: A rare genetic disorder characterized by short stature, microcephaly and a prominent nose.
• Seven point syndrome: A specific group of deformities that is associated with infantile scoliosis.
• Short stature locking fingers: A rare syndrome characterized by short stature and episodes of locked finger joints.
• Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
• Spastic paraplegia 3, autosomal dominant: A an early onset, very slow progressing form of spastic paraplegia which involves lower leg spasticity and weakness.
• Spastic paraplegia 7, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
• Spastic tetraplegic - cerebral palsy: A rare disorder characterized by the association of spasticity (muscle tightness of the arms and legs as well as cerebral palsy.
• Spinal Cord Tumor: Cancer of the spinal cord or central nervous system.
• Spinal conditions: Any condition that affects the spine
• Spinal cord neoplasm: A growth (tumor) that arises from the spinal cord. The tumor may be benign or malignant.
• Spinal curvature: Various types of curvature of the spine
• Spinal dysostosis, type Anhalt: A very rare syndrome characterized by various spinal abnormalities.
• Spinal muscular atrophy type 2: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord.
• Spinal muscular atrophy, Ryukyuan type: A recessively inherited disorder occurring in males from a Japanese inhabitants of Ryukyu Islands. The disorder is characterized by muscle wasting and weakness that affects the lower legs more than the arms.
• Spine symptoms: Symptoms affecting the spine
• Spinocerebellar Ataxia: A condition characterised by a failure of muscle coordination due to pathology arising in the spinocerebellar tract of the spinal cord
• Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance.
• Spinocerebellar ataxia, autosomal recessive 1: A neurological disorder characterized by progressive ataxia, tremor and muscle weakness and wasting. The rate of progression and severity is variable with some needing wheelchairs in their second decade and others still capable of some walking in their 4th decade.
• Split hand split foot mandibular hypoplasia: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
• Spondylocarpotarsal synostosis: A rare genetic disorder characterized by short stature, fusion of toe and finger bones and failure of spinal segmentation.
• Spondyloepimetaphyseal dysplasia with multiple dislocations: A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations.
• Spondyloepiphyseal dysplasia tarda: A rare genetic disorder characterized by short stature and skeletal abnormalities which are usually not apparent before 12 years.
• Spondyloepiphyseal dysplasia, congenita: A rare genetic bone growth disorder characterized by prenatal growth deficiency, myopia and short trunk.
• Spondylolisthesis: A condition in which 2 or more vertebra may slide backwards or forwards on each other.
• Syncamptodactyly - scoliosis: A very rare disorder characterized by the association of a curved spine and partial webbing and permanent flexion of 2nd and 3rd toes.
• Syringomyelia: Spinal cord cysts
• Tethered Spinal Cord Syndrome: Spinal cord condition from abnormally stretched spinal cord.
• Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
• Trisomy 12 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 12 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 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.
• Tuberculosis: Bacterial infection causing nodules forming, most commonly in the lung.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Upton Young syndrome: A syndrome which is characterised by the association of multiple symptoms including mental retardation and multiple nevi
• Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
• Venencie Powell Winkelmann syndrome: A congenital condition that is characterised by the occurrence of a number of clinical signs and symptoms
• Vertebral body fusion overgrowth: A condition that is characterised by increased keratinization of the skin with a x-linked genetic trait
• Vitamin D resistant rickets: A form of rickets that is caused by Vitamin D resistance
• Waaler Aarskog syndrome: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
• Watson syndrome: A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
• Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
• Weismann-Netter-Stuhl Syndrome: A very rare inherited disorder characterized by bone development abnormalities.
• Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability

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