SNP Shot: Genomic Insights

Congenital contractural arachnodactyly (CCA) is a condition impacting multiple areas of the body. Individuals with CCA are generally tall with elongated limbs (dolichostenomelia) and exhibit long, thin fingers and toes (arachnodactyly). Joint contractures, causing limited movement, are frequently present in the hips, knees, ankles, or elbows. Other characteristics of CCA may include underdeveloped musculature, kyphoscoliosis (a rounded upper back with lateral curvature), camptodactyly (permanently bent fingers and toes), "crumpled" appearing ears, and pectus carinatum (protruding chest). In some cases, individuals with CCA may have cardiac issues, such as aortic root dilatation (enlargement of the aorta) or mitral valve prolapse (a leaky heart valve). While the severity of CCA symptoms varies, life expectancy is generally normal.

A less common, severe manifestation of CCA includes skeletal features alongside heart and digestive system problems. Individuals affected by this severe form typically do not survive beyond infancy.

Inheritance:

CCA follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is necessary for the disorder to develop.