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 nipple||90%|
|Highly arched eyebrow||90%|
|Hypoplasia of penis||90%|
|Intrauterine growth retardation||90%|
|Low-set, posteriorly rotated ears||90%|
|Prominent nasal bridge||90%|
|Abnormality of the upper urinary tract||50%|
|Abnormality of the voice||50%|
|Camptodactyly of finger||50%|
|Single transverse palmar crease||50%|
|Thickened nuchal skin fold||50%|
|Underdeveloped nasal alae||50%|
|Autosomal recessive inheritance||-|
|Death in infancy||-|
|Frontal upsweep of hair||-|
|Hypoplastic male external genitalia||-|
|Low anterior hairline||-|
|Posteriorly rotated ears||-|
|Wide intermamillary distance||-|
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.