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 neck||-|
|Absence of labia majora||-|
|Anterior clefting of vertebral bodies||-|
|Autosomal recessive inheritance||-|
|Camptodactyly of toe||-|
|Conductive hearing impairment||-|
|Congenital diaphragmatic hernia||-|
|Decreased fetal movement||-|
|Dislocated radial head||-|
|Downslanted palpebral fissures||-|
|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.
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