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

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