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)
|Abnormality of blood and blood-forming tissues||-|
|Abnormality of the neck||-|
|Abnormality of the scapula||-|
|Absent sternal ossification||-|
|Agenesis of corpus callosum||-|
|Aplasia/Hypoplasia of the distal phalanges of the hand||-|
|Aplasia/Hypoplasia of the hallux||-|
|Aplasia/Hypoplasia of the middle phalanges of the hand||-|
|Aplasia/Hypoplasia of the nails||-|
|Autosomal recessive inheritance||-|
|Broad secondary alveolar ridge||-|
|Decreased skull ossification||-|
|Hypoplastic facial bones||-|
|Intrauterine growth retardation||-|
|Pulmonary arterial hypertension||-|
|Severe failure to thrive||-|
|Severe global developmental delay||-|
|Short upper lip||-|
|Single transverse palmar crease||-|
|Sparse and thin eyebrow||-|
|Sparse scalp hair||-|
|Tetralogy of Fallot||-|
|Thin vermilion border||-|
|Upslanted palpebral fissure||-|
|Ventricular septal defect||-|
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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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