The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal form of the vertebral bodies||90%|
|Abnormality of dental enamel||90%|
|Abnormality of dental morphology||90%|
|Abnormality of epiphysis morphology||90%|
|Abnormality of the metacarpal bones||90%|
|Delayed eruption of teeth||90%|
|Delayed skeletal maturation||90%|
|Depressed nasal bridge||90%|
|Midline defect of the nose||90%|
|Abnormality of the hip bone||50%|
|Sensorineural hearing impairment||50%|
|Abnormality of the upper urinary tract||7.5%|
|Extrahepatic biliary duct atresia||7.5%|
|Ventricular septal defect||7.5%|
|Vocal cord paresis||7.5%|
|Proximal placement of thumb||5%|
|Atria septal defect||-|
|Atrioventricular canal defect||-|
|Autosomal recessive inheritance||-|
|Congenital hip dislocation||-|
|Coronal cleft vertebrae||-|
|Delayed ossification of carpal bones||-|
|Hypoplasia of dental enamel||-|
|Hypoplasia of the corpus callosum||-|
|Hypoplasia of the odontoid process||-|
|Short phalanx of finger||-|
|Squared iliac bones||-|
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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