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)|
|Intellectual disability||Very rare
(present in 1%-4% of cases)
|Abnormality of the hand||-|
|Abnormality of the nasopharynx||-|
|Decreased number of sternal ossification centers||-|
|Downslanted palpebral fissures||-|
|Everted lower lip vermilion||-|
|Generalized tonic-clonic seizures||-|
|High, narrow palate||-|
|Hypotrichosis of the scalp||-|
|Increased number of teeth||-|
|Obstructive sleep apnea||-|
|Optic nerve coloboma||-|
|Proportionate short stature||-|
|Pulmonary arterial hypertension||-|
|Recurrent respiratory infections||-|
|Selective tooth agenesis||-|
|Slender long bone||-|
|Small for gestational age||-|
|Sparse and thin eyebrow||-|
|Thin vermilion border||-|
|Underdeveloped nasal alae||-|
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.