Char syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by:
- Triad of patent ductus arteriosus (PDA)
- Typical facial features with depressed nasal bridge and broad flat nasal tip, widely spaced eyes, down slanted palpebral fissures.
- Aplasia or hypoplasia of the middle phalanges of the fifth fingers
The incidence of Char syndrome is less than 1 case in 1,000,000, where 100 cases from 13 families were reported in the scientific literature. That’s why Char syndrome should be suspected in individuals with the following clinical and family history findings. Causal mutations in the TFAP2B gene (chromosome 6p12.3), encoding a member of the AP-2 family of transcription factors were identified and to be blamed for Char Syndrome. TFAP2B sequence analysis detects pathogenic variants in approximately 50% of affected individuals.
The key clinical features of Char syndrome are the key to diagnosis. Moreover, antenatal diagnosis is advised and required with families of the previous history to enable an early diagnosis and management. Both Sequence analysis & Gene-targeted deletion/duplication analysis are used to detect the mutation.
The FDA approved Ibuprofen lysine for 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.