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)|
|Pseudoepiphyses of the 2nd finger||100%|
|Abnormality of epiphysis morphology||90%|
|Clinodactyly of the 5th finger||90%|
|Highly arched eyebrow||50%|
|Limitation of joint mobility||50%|
|Low-set, posteriorly rotated ears||50%|
|Ventricular septal defect||50%|
|Bilateral single transverse palmar creases||40%|
|Abnormality of the pinna||33%|
|Abnormality of the ribs||7.5%|
|Atria septal defect||7.5%|
|Camptodactyly of finger||7.5%|
|Cleft upper lip||7.5%|
|Intrauterine growth retardation||7.5%|
|Joint contracture of the hand||7.5%|
|Recurrent abscess formation||7.5%|
|Coarctation of aorta||-|
|Postnatal growth retardation||-|
|Ulnar deviation of the 2nd finger||-|
|X-linked recessive inheritance||-|
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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.
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