Char Syndrome

Excerpt

Char syndrome is a rare autosomal dominant disorder characterized by the triad of atypical facial features, patent ductus arteriosus (PDA), and aplasia or hypoplasia of the middle phalanges of the fifth fingers. Florence Char, who described a child in whom PDA was associated with low-set ears, ptosis, short philtrum, and "duck-bill" lips, first reported the syndrome in 1978.

Typical facial features include a depressed nasal bridge and broad flat nasal tip, widely spaced eyes, down-slanted palpebral fissures, mild ptosis, a short philtrum with prominent philtrum ridges with an upward pointing vermilion border resulting in a triangular mouth and thickened (patulous) everted lips. The most commonly identified cardiac anomaly is PDA. Less common findings include other types of congenital heart defects, other hand and foot anomalies, hypodontia, hearing loss, myopia and/or strabismus, polythelia, parasomnia, craniosynostosis (involving either the metopic or sagittal suture), and short stature.