Search for a rare disease
Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
The prevalence of Char syndrome has not been determined but is thought to be quite low.
Typical facial features include a flat midface, flat nasal bridge, wide-set eyes, downslanting palpebral fissures, mild ptosis, a short philtrum, a triangular mouth, and thickened (patulous) everted lips. Hand abnormalities include aplasia or hypoplasia of the middle phalanges of the fifth fingers but can also be as minimal as fifth finger clinodactyly, which can be a normal finding and overlaps with numerous other syndromes. Less common features associated with Char syndrome are: other heart defects (such as interventricular communication or complex congenital defects), other hand abnormalities (such as interstitial polydactyly, distal symphalangism of the fifth fingers: fusion of the distal interphalangeal joints), polythelia (supernumerary nipples), foot anomalies (interphalangeal joint fusion or clinodactyly, interstitial polydactyly, syndactyly), strabismus, mild to moderate developmental delay, prominent occiput, persistence of the deciduous teeth in the absence of permanent dentition, and somnambulism.
The disease is known to be associated with mutations in the TFAP2B gene, encoding a transcription factor. The proportion of cases caused by de novo mutations is unknown.
Prenatal testing for families in which the disease-causing mutation has been identified in an affected family member is only available in research laboratories. For pregnancies associated with increased risk, prenatal ultrasound examination may identify abnormal hands or feet, as well as complex congenital heart defects. Since PDA is a normal foetal feature, it cannot be used as a diagnostic marker in utero.
Char syndrome is an autosomal dominant trait.
Management and treatment
The major focus for managing individuals with Char syndrome concerns the cardiovascular involvement. Management of PDA after the immediate newborn period is determined by the degree of shunting from the aorta to the pulmonary artery. Surgical ligation or ductal occlusion at catheterisation are treatment options. No data are available about the success of plastic surgery for the facial features in Char syndrome. Preventive paediatric care should be offered for the associated anomalies such as visual problems and developmental delay, which can be improved through early intervention.
The prognosis depends on the potential presence of associated heart malformations.
- Clinical genetics review
- English (2013)