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 fibula||90%|
|Aplasia/Hypoplasia of the fibula||90%|
|Aplasia/Hypoplasia of the ulna||90%|
|Hypoplasia of the radius||90%|
|Aplasia/Hypoplasia of the 5th finger||75%|
|Aplasia/hypoplasia of the femur||75%|
|Congenital hip dislocation||75%|
|Hypoplastic iliac wing||75%|
|Abnormal finger flexion creases||50%|
|Abnormality of the femur||50%|
|Abnormality of the fingernails||50%|
|Abnormality of the hip bone||50%|
|Abnormality of the metacarpal bones||50%|
|Bowing of the long bones||50%|
|Clinodactyly of the 5th finger||50%|
|Postaxial hand polydactyly||50%|
|Sacrococcygeal pilonidal abnormality||50%|
|Single transverse palmar crease||50%|
|Symphalangism affecting the phalanges of the hand||50%|
|Ulnar deviation of finger||50%|
|Aplasia/Hypoplasia involving the metacarpal bones||33%|
|Aplasia/Hypoplasia of metatarsal bones||33%|
|Low-set, posteriorly rotated ears||7.5%|
|Short distal phalanx of finger||7.5%|
|Aplasia/Hypoplasia of the phalanges of the hand||-|
|Autosomal recessive inheritance||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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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