SNP Shot: Genomic Insights

Char syndrome is a genetic disorder that impacts the formation of the face, heart, and extremities. It's defined by three primary traits: a unique facial structure, a heart problem known as patent ductus arteriosus (PDA), and irregularities in the hands.

Individuals with Char syndrome typically exhibit specific facial characteristics, including flattened cheekbones and a flat nasal bridge (the upper part of the nose between the eyes). The nasal tip is also usually flat and broad. Their eyes are widely spaced, often with drooping eyelids (ptosis) and an outward and downward slant (down-slanting palpebral fissures). Other facial features may include a shortened philtrum (the space between the nose and upper lip), a triangular-shaped mouth, and thick, noticeable lips.

Patent ductus arteriosus (PDA) is a frequent heart abnormality observed in newborns, and it's present in the majority of infants with Char syndrome. Prior to birth, the ductus arteriosus connects the aorta and the pulmonary artery. This connection typically closes shortly after birth, but it remains open in individuals with PDA. Untreated PDA can lead to rapid breathing, feeding difficulties, and poor weight gain in infants. In severe instances, it can result in heart failure. Furthermore, individuals with PDA have a higher susceptibility to infections.

Hand anomalies are another distinguishing feature of Char syndrome. Most affected individuals experience shortening or absence of the middle segment of the little finger (pinky finger). While less common, other abnormalities of the hands and feet have also been documented.

Inheritance:

Char syndrome follows an autosomal dominant inheritance pattern. This means that possessing only one copy of the mutated gene in each cell is enough to cause the condition. In some instances, an affected individual inherits the gene variant from a parent who also has the condition. However, other cases may arise from new gene mutations and occur in individuals with no prior family history of Char syndrome.