Char syndrome (CHAR)

What is Char syndrome (CHAR)?

This rare disease is a genetic condition that presents with 3 identifying features.

These are distinct facial features, a heart condition (patent ductus arteriosus) and hand abnormalities.

This syndrome is also known as:
Char Char (1978) - Ptosis; 'duck-Bill Lips'; Short Philtrum Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits

What gene changes cause Char syndrome (CHAR)?

Mutations to the TFAP2B gene cause Char syndrome. It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Char syndrome (CHAR)?

There are 3 main, identifying symptoms of the syndrome:

1. Distinct facial features: including a depressed nasal bridge, depressed nasal ridge, down slanted palpebral fissures (eyelid openings), wide set eyes, a dropping lower jaw and triangular mouth

2. Heart condition: patent ductus arteriosus (where the patent ductus fails to close after birth allowing blood to flow from the left side of the heart from the aorta into the lungs

3. Hand abnormalities: a permanent curving of the 5th finger

Possible clinical traits/features:
Low-set ears, Myopia, Intellectual disability, mild, Reduced consciousness/confusion, Ventricular septal defect, Supernumerary nipple, Thick eyebrow, Ptosis, Strabismus, Thick lower lip vermilion, Short philtrum, Distal/middle symphalangism of 5th finger, Symphalangism affecting the phalanges of the hand, Reduced number of teeth, Broad nasal tip, Autosomal dominant inheritance, Protruding ear, Triangular mouth, Foot polydactyly, Hand polydactyly, Toe syndactyly, Patent ductus arteriosus, Prominent occiput, Depressed nasal bridge, Hearing impairment, Broad forehead, Highly arched eyebrow, Cognitive impairment, Hypertelorism, Depressed nasal ridge, Downslanted palpebral fissures, Everted lower lip vermilion, Clinodactyly of the 5th finger, Malar flattening

How does someone get tested for Char syndrome (CHAR)?

The initial testing for Char syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Medical information on Char syndrome (CHAR)

Patent ductus arteriosus (PDA) has occasionally been reported as an autosomal dominant trait (Burman, 1961; Lynch et al., 1965; Martin et al., 1986; Rogers et al., 1992; Davidson, 1992; Woods and Sheffield, 1994). The recurrence risk after the birth of a single case in a family is 3% (Nora and Nora, 1988). Note that PDA can be part of the autosomal dominant Char (1978) syndrome (qv). Sletten and Pierpont (1995) reported a dominant pedigree where seven individuals had a PDA. They had mild facial features of Char syndrome but normal intelligence.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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