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)|
|Agenesis of corpus callosum||-|
|Ambiguous genitalia, male||-|
|Arnold-Chiari type I malformation||-|
|Autosomal recessive inheritance||-|
|Decreased palmar creases||-|
|Downslanted palpebral fissures||-|
|Feeding difficulties in infancy||-|
|Intellectual disability, progressive||-|
|Intellectual disability, severe||-|
|Joint contracture of the hand||-|
|Multiple joint contractures||-|
|Multiple small bowel atresias||-|
|Sensorineural hearing impairment||-|
|Stenosis of the external auditory canal||-|
|Thin vermilion border||-|
|Upslanted palpebral fissure||-|
|Ventricular septal defect||-|
|Wide intermamillary distance||-|
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.