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 humerus||90%|
|Abnormality of the metacarpal bones||90%|
|Abnormality of the tibia||90%|
|Aplasia/Hypoplasia of the uvula||90%|
|Clinodactyly of the 5th finger||90%|
|Limitation of joint mobility||90%|
|Synostosis of carpal bones||90%|
|Ulnar deviation of finger||90%|
|Abnormality of the femur||50%|
|Abnormal nasal morphology||7.5%|
|Abnormality of the ankles||7.5%|
|Abnormality of the eyebrow||7.5%|
|Abnormality of the upper urinary tract||7.5%|
|Convex nasal ridge||7.5%|
|Hypoplasia of the zygomatic bone||7.5%|
|Short umbilical cord||3/5|
|Abnormality of the abdomen||-|
|Abnormality of the vertebrae||-|
|Autosomal dominant inheritance||-|
|Mesomelic short stature||-|
|Partial fusion of proximal row of carpal bones||-|
|Progressive forearm bowing||-|
|Ulnar deviation of the hand or of fingers of the hand||-|
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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