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)|
|Abnormality of the distal phalanx of finger||90%|
|Abnormality of the fingernails||90%|
|Abnormality of the toenails||90%|
|Clinodactyly of the 5th finger||90%|
|Convex nasal ridge||90%|
|Intrauterine growth retardation||90%|
|Low-set, posteriorly rotated ears||90%|
|Prominent metopic ridge||90%|
|Underdeveloped supraorbital ridges||90%|
|Wide nasal bridge||90%|
|Abnormality of the palate||7.5%|
|Hernia of the abdominal wall||7.5%|
|Ventricular septal defect||7.5%|
|Broad secondary alveolar ridge||-|
|Posteriorly rotated ears||-|
|Premature posterior fontanelle closure||-|
|Small anterior fontanelle||-|
|Small for gestational age||-|
|X-linked recessive inheritance||-|
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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