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Char Syndrome.

Authors

Gelb BD1.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Aug 15 [updated 2013 Jan 24].

Author information

1
Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York

Excerpt

CLINICAL CHARACTERISTICS:

Char syndrome is characterized by the triad of typical facial features, patent ductus arteriosus (PDA), and aplasia or hypoplasia of the middle phalanges of the fifth fingers. Typical facial features are flat midface, flat nasal bridge and broad flat nasal tip, wide-set eyes, downslanting palpebral fissures, mild ptosis, short philtrum resulting in a triangular mouth, and thickened (patulous) everted lips.

DIAGNOSIS/TESTING:

The diagnosis of Char syndrome is established by clinical findings. TFAP2B is the only gene in which pathogenic variants are known to cause Char syndrome. TFAP2B sequence analysis detects pathogenic variants in about 50% of affected individuals.

MANAGEMENT:

Treatment of manifestations: Management of patent ductus arteriosus after the immediate newborn period is determined by the degree of shunting from the aorta to the pulmonary artery; options are surgical ligation or ductal occlusion at catheterization. Hearing loss, visual problems, and developmental delay are treated in a routine manner.

GENETIC COUNSELING:

Char syndrome is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo pathogenic variant is unknown. If a parent of the proband is affected, the risk to the sibs is 50%. When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low. Each child of an individual with Char syndrome has a 50% chance of inheriting the pathogenic variant and having the disorder. If the pathogenic variant has been identified in an affected family member, prenatal testing for at-risk pregnancies and preimplantation genetic diagnosis are possible.

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