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 femur||90%|
|Abnormality of the fibula||90%|
|Abnormality of the hip bone||90%|
|Abnormality of the knee||90%|
|Abnormality of the skin||90%|
|Abnormality of the spleen||90%|
|Abnormality of the wrist||90%|
|Hernia of the abdominal wall||90%|
|Upper limb phocomelia||90%|
|Lower limb asymmetry||50%|
|Abnormal lung lobation||7.5%|
|Abnormality of neuronal migration||7.5%|
|Abnormality of the palate||7.5%|
|Aplasia/Hypoplasia of the lungs||7.5%|
|Aplasia/Hypoplasia of the sacrum||7.5%|
|Congenital diaphragmatic hernia||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Reduced number of teeth||7.5%|
|Abnormality of the genitourinary system||-|
|Autosomal dominant inheritance||-|
|Crowded maxillary incisors||-|
|Multiple unerupted teeth||-|
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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