BabyScreen+ newborn screening

Gene: TFAP2B

Red List (low evidence)

Treatment of congenital heart disease is symptomatic; other syndromic and non-syndromic causes of CHD excluded.

Created: 29 Dec 2022, 6:49 a.m. | Last Modified: 29 Dec 2022, 6:49 a.m.

Panel Version: 0.1719

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Char syndrome, MIM 169100

I don't know

Gene-disease association: strong. Char syndrome is characterized by the triad of typical facial features, patent ductus arteriosus, and aplasia or hypoplasia of the middle phalanges of the fifth fingers. Typical facial features are depressed nasal bridge and broad flat nasal tip, widely spaced eyes, downslanted palpebral fissures, mild ptosis, short philtrum with prominent philtral ridges with an upward pointing vermilion border resulting in a triangular mouth, and thickened (patulous) everted lips. 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, and short stature.

Severity: moderate-severe

Age of onset: congenital

Non-molecular confirmatory testing: only by clinical features

Treatment: Ligation of PDA is main specific treatment. Not clear if this is sufficient to get to green.

Created: 29 Dec 2022, 2:16 a.m. | Last Modified: 29 Dec 2022, 2:16 a.m.

Panel Version: 0.1710

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIM 169100 Char syndrome