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last update : 30-06-2012
Symbol HCOD
Location 12p12
Name hypertrichotic osteochondrodysplasia
Other name(s) Cantu syndrome
Corresponding gene ABCC9
Main clinical features
  • congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly, with patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in ∼80p100 of cases
  • macrocephaly and coarse facial features, with a broad nasal bridge, epicanthal folds, wide mouth, and full lips, suggesting a a storage disorder
  • most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability
  • Genetic determination
    Function/system disorder
    Type disease
  • potassium channelopathies (PMID: 22608503))