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 calvarial morphology||90%|
|Abnormality of dental morphology||90%|
|Abnormality of pelvic girdle bone morphology||90%|
|Abnormality of the cardiac septa||90%|
|Abnormality of the fingernails||90%|
|Abnormality of the nose||90%|
|Abnormality of the palate||90%|
|Clinodactyly of the 5th finger||90%|
|Neurological speech impairment||90%|
|Reduced bone mineral density||90%|
|Abnormality of the upper urinary tract||50%|
|Atria septal defect||-|
|Autosomal recessive inheritance||-|
|Cuboid-shaped thoracolumbar vertebral bodies||-|
|Failure to thrive||-|
|Feeding difficulties in infancy||-|
|Hyperconvex thumb nails||-|
|Intrahepatic biliary atresia||-|
|Partial agenesis of the corpus callosum||-|
|Wide nasal bridge||-|
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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