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)|
(present in 5%-29% of cases)
|Abnormal morphology of the limbic system||-|
|Absent septum pellucidum||-|
|Anomalous tracheal cartilage||-|
|Arnold-Chiari type I malformation||-|
|Broad distal hallux||-|
|Broad distal phalanx of the thumb||-|
|Cervical C5/C6 vertebrae fusion||-|
|Chronic otitis media||-|
|Delayed cranial suture closure||-|
|Delayed eruption of teeth||-|
|Downslanted palpebral fissures||-|
|Posterior fossa cyst||-|
|Synostosis of carpal bones||-|
|Ventricular septal defect||-|
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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