Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
6p12.3
Char Syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers). [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 169100.1 | Lebanon | Male | No | Yes | Failure to thrive; Clinodactyly; Paten... Failure to thrive; Clinodactyly; Patent foramen ovale; Abnormal facial shape  | NM_003221.4:c.650del | Heterozygous | Autosomal, Dominant | Massaad et al. 2019 | de novo mutation |