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 pelvic girdle bone morphology||90%|
|Abnormality of the femur||90%|
|Abnormality of the ribs||90%|
|Camptodactyly of finger||90%|
|Hypoplasia of the zygomatic bone||90%|
|Limitation of joint mobility||90%|
|Low-set, posteriorly rotated ears||90%|
|Abnormality of the urinary system||50%|
|Underdeveloped supraorbital ridges||7.5%|
|Abnormal renal morphology||-|
|Abnormalities of placenta or umbilical cord||-|
|Abnormality of metabolism/homeostasis||-|
|Abnormality of the abdomen||-|
|Abnormality of the endocrine system||-|
|Abnormality of the pinna||-|
|Atria septal defect||-|
|Autosomal recessive inheritance||-|
|Conductive hearing impairment||-|
|Depressed nasal bridge||-|
|Fused labia minora||-|
|Hypoplastic labia majora||-|
|Joint contracture of the hand||-|
|Low maternal serum estriol||-|
|Maternal virilization in pregnancy||-|
|Narrow pelvis bone||-|
|Rocker bottom foot||-|
|Small for gestational age||-|
|Stenosis of the external auditory canal||-|
|Upper airway obstruction||-|
|Wide anterior fontanel||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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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