Glossary for Deformity symptoms

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

• $10q Partial Trisomy$: A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the duplicated genetic material.
• $1q deletion$: 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.
• $3-M Syndrome$: 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.
• $4p16.3 deletion$: 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.
• $7p2 Monosomy Syndrome$: A rare chromosomal disorder where there is one copy of the end 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 deleted.
• Absent alpha 1 band: An absence of alpha-1-antitrypsin the the body
• Acalvaria: A rare congenital condition where the skull cap is missing but the rest of the face and base of the skull is normal. The skin of the scalp simply covers the brain with no protective skull bone under it.
• Acetaminophen - Teratogenic Agent: There is strong evidence to indicate that exposure to Acetaminophen 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.
• Acitretin- Teratogenic Agent: Reports indicate that the use of Acitretin during pregnancy may cause various harmful effects on the fetus. The likelihood and severity of symptoms may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at. Acitretin should not be taken by women who are pregnant or planning on becoming pregnant.
• Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
• Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
• Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
• Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
• Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
• Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
• Alcohol - Teratogenic Agent: There is strong evidence to indicate that exposure to Alcohol 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.
• Amniotic Bands: A rare condition where abnormal fetal development occurs when bands of tissue encircle parts of the fetus and affect the growth of that portion. The band of tissue develops from the internal womb lining. The location of the band on the fetus determines the symptoms and the seriousness of the condition.
• Amobarbital - Teratogenic Agent: There is strong evidence to indicate that exposure to Amobarbital 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.
• Anal symptoms: Symptoms affecting the anus.
• Anencephaly: A birth defect where large parts of the brain is missing and the brainstem is malformed.
• Angio-osteohypotrophic syndrome: A rare disorder characterized by malformation of the peripheral (usually veins) blood vessels and skeletal abnormalities. The malformed blood vessels cause localized soft tissue swellings and if veins in bones are affected, the bone may degenerate due to an insufficient blood supply. Usually the hands are affected.
• Anophthalmia - megalocornea - cardiopathy - skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
• Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
• Arachnoid Cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the cyst.
• Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
• 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.
• Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• 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.
• Baker-Vinters syndrome: A very rare syndrome characterized by premature fusion of skull bones, hydrocephalus and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles.
• Basilar impression primary: A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospinal fluid flow may be obstructed which can cause fluid to build up inside the skull (hydrocephalus).
• Bessel-Hagen disease: A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones.
• Biaxin - Teratogenic Agent: There is evidence to indicate that exposure to Biaxin (an antibiotic) 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.
• Birth defects: Conditions which are present at birth and are considered alterations to what is considered normal in a newborn baby
• 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.
• Brachycephaly - deafness - cataract - mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Brachycephaly - deafness - cataract - microstomia - mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
• Celiac Disease: Digestive intolerance to gluten in the diet.
• Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction: A rare disorder characterized mainly by kidney and urinary system abnormalities, scoliosis and omphalocele. The features of the disorder are variable with male cases tending to be more severe than female cases. Only a few cases of this condition have been reported.
• Chemical poisoning - Thallium: Thallium is an element used for such things as electronic devices, selenium rectifiers, gamma radiation detection apparatus, transmission equipment and infrared radiation detection. It is also used as a catalyst in various manufacturing processes. 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.
• Chest deformity: Abnormal chest structure.
• Chondromatosis (benign): Benign cartilage growths that can occur in various parts of the body. Symptoms are determined by the size and exact location of the growth. For example, a spinal chondroma can result in compression of the spinal cord.
• Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
• 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 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 11p, partial deletion: A rare genetic syndrome caused by the deletion of part of the genetic material in the short arm of chromosome 11. The type and severity of symptoms may vary depending on the exact size and location of the genetic material that is missing. The genetic abnormality is often associated with Wilms' tumor and aniridia (complete or partial absence of the iris of the eye).
• 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 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, 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 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 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 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 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 Distal 4q: A rare chromosomal disorder involving a deletion of the end portion of the long arm of chromosome 4. The symptoms are determined by the size and exact location of the deleted portion.
• 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 5, monosomy 5q35: A very rare chromosomal disorder whose symptoms are variable but often include facial anomalies, skull malformations, developmental delay and heart defects.
• 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 7, Monosomy 7p2: A rare chromosomal disorder where there is one copy of the end 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 deleted.
• Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, terminal 7p deletion: A rare chromosomal disorder where there is one copy of the end 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 deleted.
• 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 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 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
• 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, 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 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 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 9 Ring: A rare chromosomal abnormality where genetic material from the two ends is missing and the two ends rejoin to form a ring. The symptoms are determined by the size and exact location of the deleted portion.
• Chromosome 9 inversion or duplication: A very rare genetic disorder where a portion of chromosome 9 is inverted or 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 (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
• 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.
• Chronic Alcoholism - Teratogenic Agent: There is strong evidence to indicate that chronic alcoholism 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.
• Chronic recurrent multifocal osteomyelitis: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
• Clarithromycin - Teratogenic Agent: There is evidence to indicate that exposure to Clarithromycin (an antibiotic) 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.
• Cleft lip: A condition which is characterized by a congenital cleft of the upper lip
• Cleft palate: This when there is a congenital fissure of the median line of the palate.
• Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
• Congenital craniosynostosis maternal hyperthyroiditis: The association of maternal thyroid disease with premature fusion of skull bones in infants. Studies have shown and increased risk of craniosynostosis in infants born to mothers with hyperthyroidism.
• Congenital disorder of glycosylation type 1H: 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 Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).
• Congenital heart disease, ptosis, hypodontia, craniosynostosis: A rare birth syndrome characterized by heart disease, droopy eyelids, missing teeth and premature fusion of skull bones.
• Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
• 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.
• Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
• Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
• Craniosynostosis Fontaine type: A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia).
• Craniosynostosis exostoses nevus epibulbar dermoid: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
• Craniosynostosis, anal anomalies, and porokeratosis: A very rare disorder characterized primarily by the premature fusion of skull bones (coronal sutures), anal anomalies and a skin disorder called porokeratosis.
• Craniotelencephalic dysplasia: A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.
• Crixan - Teratogenic Agent: There is evidence to indicate that exposure to Crixan (an antibiotic) 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.
• Cryptorchidism: A condition where one or both testes fail to descend to the normal position in the scrotum. Also called cryptorchis or undescended testis.
• Cryptorchidism - arachnodactyly - mental retardation: A very rare syndrome characterized mainly by undescended testes, long thin fingers and mental retardation.
• Cutis laxa - osteoporosis: A very rare disorder characterized mainly by loose skin and osteoporosis. The bones are so weak they fracture easily during infancy and can result in bone deformity.
• Deformity symptoms: Various types of deformity
• 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 12p13: A very rare chromosomal disorder where a portion of the short arm (p13) of chromosome 12 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms can vary amongst patients depending on the exact location and size of the genetic abnormality.
• 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 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.
• Desbuquois dysplasia-like syndrome: A rare syndrome characterized by various anomalies similar to Desbuquois syndrome but there is no mental retardation, hand abnormalities or facial anomalies involved.
• Diaphragmatic hernia, congenital: A birth defect involving an abnormal opening in the diaphragm which is a structure that assists breathing and keeps the abdominal organs from moving into the chest. The abdominal organs can protrude through this abnormal opening and restrict the growth of chest organs such as the lung and heart. The severity of the condition is variable depending on the size of the defect - some cases aren't diagnosed until adulthood.
• Diaphyseal aclasis: A rare inherited bone development abnormality where excessive bone growths form on developing bones. The bony projections can affect surrounding tissue such as nerves and cause further symptoms. The disorder carries the risk of developing chondrosarcoma which is a type of bone cancer.
• 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.
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• 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.
• Dup(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is duplicated. The type and severity of symptoms may vary.
• Duplication 10q partial: A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the 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 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.
• 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.
• Encephalo cranio cutaneous lipomatosis: A rare genetic disorder characterized by craniofacial lipomas, cerebral atrophy and patches of alopecia.
• Enchondromatosis (benign): Benign cartilage growths that develop inside bones.
• Ergotamine - Teratogenic Agent: There is evidence to indicate that exposure to Ergotamine 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.
• Ethanol - Teratogenic Agent: There is evidence to indicate that exposure to Ethanol 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.
• FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
• FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
• FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
• FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
• FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
• FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
• Fanconi renotubular syndrome: A condition where the kidneys are unable to reabsorb glucose and amino acids and hence they are excreted in the urine. The condition may be inherited or occur as a result of heavy metal toxicity, malignancy and myeloma.
• Fernhoff-Blackston-Oakley syndrome: A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities.
• Fetal alcohol syndrome: A condition which occurs in a new born fetus and is caused by the mother consuming excess alcohol during her pregnancy
• Fibromatosis gingival - hypertrichosis: A rare disorder characterized by excessive growth of body hair and enlarged gums.
• Fine-Lubinsky syndrome: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Foot deformity: A alteration of the foot structurally that it doesn't appear as normal
• 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.
• Genoa syndrome: A rare disorder characterized mainly by premature fusion of skull bones and partial separation of the two brain halves.
• 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.
• Gracile bone dysplasia: An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities.
• Growth Hormone Receptor Deficiency: 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.
• Growth plate injuries: Injury to the growing ends of young bones.
• Haferkamp syndrome: A severe lymphatic malformation syndrome involving multiple hemangiomas and gradual spontaneous bone resorption. It is a severe generalized form of Gorham syndrome which is a lymphatic malformation syndrome involving the bone.
• Herrmann Opitz arthrogryposis syndrome: A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature.
• 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.
• Hydrocephalus - craniosynostosis - bifid nose: A very rare disorder characterized mainly by a buildup of fluid inside the skull, premature fusion of skull bones and a bifid nose.
• Hydrolethalus syndrome: A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly.
• Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.
• Ichthyosis-cheek-eyebrow syndrome: A rare genetic disorder involving sparse eyebrows, full cheeks and a skin condition characterized by fish-like scales.
• Iida-Kannari syndrome: A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones.
• Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
• Infex - Teratogenic Agent: There is evidence to indicate that exposure to Infex (an antibiotic) 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.
• Intrauterine infections: Infection of the fetus while still inside the womb. The type and severity of symptoms is determined by the type of infection and at what stage of pregnancy it occurs. Some cases are mild enough to be asymptomatic and others are severe enough to cause a miscarriage.
• Jaw deformity: Swelling of the jaw causing cosmetic or functional deficit; usually occurs with significant pain.
• Kenny-Caffey Syndrome: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
• Kenny-Caffey syndrome, Type 1: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities. Type 1 is inherited in a recessive manner and is caused by a genetic defect located at chromosome 1q42-q43.
• Kenny-Caffey syndrome, Type 2: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
• Klaricid - Teratogenic Agent: There is evidence to indicate that exposure to Klaricid (an antibiotic) 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.
• Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
• Kyphosis: Increased curvature of the thoracic spine, giving the appearance of being hunched over.
• 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 Dwarfism: 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 Pituitary Dwarfism: 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: 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 Type Pituitary Dwarfism 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 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.
• Laron-type Dwarfism Phenotypic Syndrome: 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-type dwarfism: A rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results.
• Leg absence - deformity - cataract: A very rare syndrome characterized mainly by missing bones in one leg, cataracts and progressive spinal curvature.
• 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.
• Lysergic Acid Diethylamide - Teratogenic Agent: There is evidence to indicate that exposure to Lysergic Acid Diethylamide 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.
• Majeed syndrome: A rare syndrome characterized by blood abnormality and recurring bone infections.
• Maroteaux-Fonfria syndrome: A rare congenital disorder characterized by extra little fingers and extra big toes as well as the normal features associated with Apert syndrome.
• 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.
• Meconium aspiration syndrome: A condition that occurs when an infant suffers respiratory distress following birth due to the presence of meconium in the amniotic fluid.
• Meier-Rotschild syndrome: A rare disorder characterized mainly by short stature, small ears and absent kneecaps.
• Mental retardation, X-linked syndromic 14: A syndromic form of mental retardation which also involves variable features including poorly muscled build and facial 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 is located on chromosome Xq25-q26.
• Mental retardation, macrocephaly, short stature and craniofacial dysmorphism: A very rare syndrome characterized by mental retardation, short stature, a large head and facial abnormalities.
• Metatrophic dysplasia: A very rare form of dwarfism involving short limbs and a long trunk. Less than 100 cases of the condition have been reported.
• Mobius syndrome: Type of facial paralysis.
• Monosomy 12p13: A very rare chromosomal disorder where a portion of the short arm (p13) of chromosome 12 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms can vary amongst patients depending on the exact location and size of the genetic abnormality.
• Mucopolysaccharidosis VII: Disorder of mucopolysaccharide metabolism.
• Multicore disease: A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable.
• Multiple Hereditary Exostoses: An hereditary condition which is characterized by benign bony growths projecting from a bone surface
• Mycetoma: A severe fungal infection of the skin, underlying tissue and bone.
• 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.
• Oculopalatoskeletal syndrome: A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
• Ossification anomalies - psychomotor development: A rare syndrome characterized by reduced mineralization of the skull bones and other skeletal anomalies as well as psychomotor retardation.
• Ossification anomalies - psychomotor development delay: A rare syndrome characterized by poor mineralization of skull bones, reduced muscle tone, thin long bones and various other problems.
• Osteitis: Inflammation of bone.
• Osteogenesis imperfecta, type VIII: A form of connective tissue disorder involving fragile bones. Type VIII is distinguished from the other types of osteogenesis imperfecta by white sclerae, severely reduced bone mineralization and abnormal metaphyses.
• Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
• Osteoporosis: Bone mass loss (osteoporosis) as a symptom
• Osteoporosis, severe - shortened long bones - white sclerae: A rare, lethal syndrome characterized by severe osteoporosis, short limbs and white sclerae.
• 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.
• P-Aminosalicylic Acid - Teratogenic Agent: Reports indicate that the use of p-Aminosalicylic Acid during pregnancy may cause various harmful effects on the fetus. The likelihood and severity of symptoms may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at. The effect on human fetuses has not been conclusively determined.
• Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Pectus carinatum: An outward protrusion of the chest where the sternum is pressed outward.
• Pectus excavatum: An abnormal development of the chest in which the chest has a caved in appearance or sunken appearance.
• Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
• Perinatal hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a severe deficiency of alkaline phosphate which results in death before or within days of birth.
• Polyostotic osteolytic dysplasia, hereditary expansile: A very rare syndrome characterized by severe bone pain and deformity as well jaw and ear abnormalities. Deafness usually starts in the first decade. Bone symptoms such as pain usually start in the second decade.
• Postoperative hip fracture: The fracture of a hip after an operation
• Pregnancy symptoms: Symptoms related to pregnancy.
• Primary craniosynostosis: A rare condition where the skull bones close prematurely resulting in an abnormal head shape. The degree of shape abnormality is determined by which bones close prematurely.
• 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.
• 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.
• Quinine - Teratogenic Agent: There is evidence to indicate that exposure to Quinine 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.
• Ramban-Hasharon syndrome: A rare disorder characterized primarily by psychomotor retardation, short stature and neutrophil abnormalities.
• Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
• Septo-Optic Dysplasia: A rare birth defect characterized by impaired vision and pituitary deficiency.
• Seven point syndrome: A specific group of deformities that is associated with infantile scoliosis.
• Shoulder girdle defect - mental retardation, familial: A very rare syndrome characterized mainly by mental retardation and a shoulder abnormality.
• Sickle cell anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
• Skull deformity: A condition which is characterized by a deformity that is located in the skull
• Spherophakia brachymorphia syndrome: A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities.
• Spinal fracture: A fracture of one or multiple bony vertebrae
• Spondyloepimetaphyseal dysplasia with multiple dislocations: A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations.
• Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
• Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
• Tethered Spinal Cord Syndrome: Spinal cord condition from abnormally stretched spinal cord.
• Thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. There are two subtypes of the disorder (? and ?) depending on what portion of the hemoglobin is abnormally synthesized. Each of these subtypes can be further classified depending on the number of thalassemia genes involved. A total of four genes is needed to make each ? protein chains and two genes are needed to make each ? chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Thanos-Stewart-Zonana Syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
• Theodor-Hertz-Goodman syndrome: A very rare syndrome characterized mainly by short stature, fused finger bones and extra testes.
• Triploid syndrome: A complete extra set of chromosomes.
• 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 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.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Type I spinal osteoporosis: Spinal osteoporosis is rarely diagnosed until spinal bones have broken. These breaks occur at the weakest points of the spinal column.
• Vein disorders: Any disorder that affects the veins of an individual
• 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.
• Wiedemann Oldigs Oppermann syndrome: A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal 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.
• Wolcott-Rallison syndrome: A very rare genetic condition characterized primarily by the onset of diabetes mellitus during infancy and epiphyseal dysplasia (abnormal joint development).
• Worster Drought syndrome: A mild form of tetraplegic cerebral palsy
• Worth syndrome: A rare genetic disorder characterized by benign bony areas on the palate and thickening of various long bones.
• X chromosome, monosomy Xp22 pter: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual
• X chromosome, monosomy Xq28: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual
• Yim Ebbin syndrome: A congenital condition that results in several facial abnormalities
• Yunis Varon syndrome: A multisystem genetic disease that affects the skeletal system in particular
• Zori Stalker Williams syndrome: A condition that is characterised by deformities of the head, chest and nails

 » Next page: Surveys

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Next articles:

• Surveys
• Join in at the forums

Tools & Services:

• Bookmark this page
• Surveys relating to Deformity symptoms
• Symptom Search
• Symptom Checker
• Medical Dictionary
• Give your feedback

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

Enter your search terms Submit search form
Search The Web Search wrongdiagnosis.com

Common Health Mistakes

Symptom
Checker

Search Specialists by State and City