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)|
|Clinodactyly of the 5th finger||90%|
|Decreased body weight||90%|
|Displacement of the external urethral meatus||90%|
|Intrauterine growth retardation||90%|
|Neurological speech impairment||90%|
|Abnormal hair quantity||50%|
|Abnormality of the eyelashes||50%|
|Abnormality of the fingernails||50%|
|Aplasia/Hypoplasia of the eyebrow||50%|
|Recurrent respiratory infections||50%|
|Thin vermilion border||50%|
|Underdeveloped nasal alae||50%|
|Abnormality of the hip bone||7.5%|
|Single median maxillary incisor||7.5%|
|Ventricular septal defect||7.5%|
|Cutaneous finger syndactyly||-|
|Decreased subcutaneous fat||-|
|Failure to thrive||-|
|Feeding difficulties in infancy||-|
|Postnatal growth retardation||-|
|Single umbilical artery||-|
|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.
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