Char syndrome

Other Names: CHAR; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.

Genetics

Autosomal dominant pattern, a 50/50 chance.

Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion. During embryo development, TFAP2B regulates the production of the protein AP-2β, a transcription factor that is active in the neural crest and helps regulate genes that control cell division and apoptosis. There are at least 10 mutations of this gene that has been identified in people presenting Char syndrome, which alters specific regions of the gene preventing production of the transcription factor and disrupting normal development of embryo structures.

Symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Depressed nasal bridge(Depressed bridge of nose)
• Depressed nasal ridge(Flat nose)
• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Everted lower lip vermilion(Drooping lower lip)
• Hypertelorism(Wide-set eyes)
• Malar flattening(Zygomatic flattening)
• Patent ductus arteriosus
• Ptosis(Drooping upper eyelid)
• Short philtrum
• Thick vermilion borde(Full lips)
• Triangular mouth(Triangular shaped mouth)

30%-79% of people have these symptoms

• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Mesoaxial hand polydactyly
• Short middle phalanx of the 5th finger(Short middle bone of the little finger)

5%-29% of people have these symptoms

• Global developmental delay
• Hearing impairment(Deafness)
• Mesoaxial foot polydactyly(Central polydactyly of feet)
• Myopia(Close sighted)
• No permanent dentition(Absence of adult teeth)
• Persistence of primary teeth(Delayed loss of baby teeth)
• Prominent occiput(Prominent back of the skull)
• Sleep disturbance(Difficulty sleeping)
• Strabismus(Cross-eyed)
• Supernumerary nipple(Accessory nipple)
• Symphalangism of the 5th finger(Fused little finger bones)
• Toe syndactyly(Fused toes)
• Ventricular septal defect(Hole in heart wall separating two lower heart chambers)

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Ibuprofen lysine (Brand name: NeoProfen®)For closure of a clinically significant patent ductus arteriosus in premature infants weighing between 500 and 1500 g,

who are no more than 32 weeks gestational age when usual medical management (e.g., fluid restriction, diuretics, respiratory support, etc)

Char syndrome Resources
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NIH genetic and rare disease info

• NIH info on Char syndrome

Char syndrome is a rare disease.