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 metacarpal bones||90%|
|Abnormality of the teeth||90%|
|Convex nasal ridge||90%|
|Proximal placement of thumb||90%|
|Synostosis of carpal bones||90%|
|Thin vermilion border||90%|
|Abnormality of the elbow||50%|
|Abnormality of vertebral epiphysis morphology||50%|
|Intrauterine growth retardation||50%|
|Abnormal localization of kidney||7.5%|
|Abnormality of visual evoked potentials||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Hernia of the abdominal wall||7.5%|
|Hypopigmented skin patches||7.5%|
|Abnormality of the breast||-|
|Autosomal dominant inheritance||-|
|Limited elbow extension||-|
|Short phalanx of finger||-|
|Underdeveloped nasal alae||-|
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.