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)|
|Anteriorly placed anus||-|
|Atresia of the external auditory canal||-|
|Autosomal recessive inheritance||-|
|Conductive hearing impairment||-|
|Cortical gyral simplification||-|
|Cutaneous finger syndactyly||-|
|Downturned corners of mouth||-|
|Hypoplasia of the corpus callosum||-|
|Hypoplasia of the maxilla||-|
|obsolete Flat midface||-|
|Sensorineural hearing impairment||-|
|Short 4th metacarpal||-|
|Short fourth metatarsal||-|
|Short palpebral fissure||-|
|Tented upper lip vermilion||-|
|Wide anterior fontanel||-|
|Wide cranial sutures||-|
|Wide nasal bridge||-|
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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