| 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 |