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)|
|Amniotic constriction ring||90%|
|Limitation of joint mobility||90%|
|Symphalangism affecting the phalanges of the hand||90%|
|Abnormality of the foot||50%|
|Aplasia/Hypoplasia of the abdominal wall musculature||50%|
|Aplasia/Hypoplasia of the skin||50%|
|Camptodactyly of finger||50%|
|Intrauterine growth retardation||50%|
|Low-set, posteriorly rotated ears||50%|
|Vertebral segmentation defect||50%|
|Abnormality of female external genitalia||7.5%|
|Abnormality of the abdominal organs||7.5%|
|Abnormality of the aortic valve||7.5%|
|Abnormality of the ribs||7.5%|
|Aplasia/Hypoplasia of the lungs||7.5%|
|Conductive hearing impairment||7.5%|
|Hypoplasia of penis||7.5%|
|Low posterior hairline||7.5%|
|Skeletal muscle atrophy||7.5%|
|Spina bifida occulta||7.5%|
|Abnormality of the neck||-|
|Absence of labia majora||-|
|Anterior clefting of vertebral bodies||-|
|Autosomal recessive inheritance||-|
|Camptodactyly of toe||-|
|Congenital diaphragmatic hernia||-|
|Decreased fetal movement||-|
|Dislocated radial head||-|
|Downturned corners of mouth||-|
|Exostosis of the external auditory canal||-|
|Fused cervical vertebrae||-|
|Neonatal respiratory distress||-|
|Rocker bottom foot||-|
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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