Char Syndrome is a rare heart-hand syndrome named for the author who first described the disorder.
Gene affected: TFAP2B (transcription factor AP2-beta)
Chromosome: 6p12.3.
Inheritance: autosomal dominant
Key clinical features (triad):
(1) typical facial features (see below)
(2) patent ductus arteriosus (PDA)
(3) hypoplasia or aplasia of the middle phalanges of the fifth finger
Typical facial features:
(1) flat mid-face
(2) flat nasal bridge
(3) broad, flat nasal tip
(4) wide-set eyes
(5) downward-slanting palpebral fissures
(6) mild ptosis
(7) short philtrum with prominent philtral pillars
(8) thickened everted lips (patulous lips)
(9) triangular mouth
Less common findings may include:
(1) other hand defects (hypoplasia of the third fingers, interstitial polydactyly, etc)
(2) other cardiac defects (ventricular septal defect, etc)
(3) foot anomalies
(4) lack of second and/or third molars (hypodontia)
(5) supernumary nipples (polythelia)
(6) hearing loss
(7) visual impairment
(8) mild or moderate developmental delay
(9) parasomnia
