Congenital Contractural Arachnodactyly Clinical Trials 2026 — Find Recruiting Studies

About Congenital Contractural Arachnodactyly

Congenital contractural arachnodactyly is an autosomal dominant connective tissue disorder caused by pathogenic variants in FBN2, encoding fibrillin-2, which shares structural homology with the fibrillin-1 protein mutated in Marfan syndrome. The hallmark features are congenital contractures of multiple joints, arachnodactyly, dolichostenomelia, scoliosis, and a distinctive crumpled ear helix, distinguishing it clinically from Marfan syndrome. Cardiac involvement including mitral valve abnormalities and occasionally aortic root dilatation can occur, though the cardiovascular risk is generally less severe than in Marfan syndrome.

Common Clinical Features

Congenital flexion contractures of fingers, elbows, knees, and hips Arachnodactyly (long, slender fingers and toes) Dolichostenomelia (long, slender limbs relative to trunk) Progressive scoliosis Crumpled or abnormally folded ear helices Mitral valve prolapse Marfanoid body habitus with tall stature

Clinical Trial Eligibility Tips

What to know before applying to Congenital Contractural Arachnodactyly trials.

Clinical photography documenting joint contractures and ear morphology may be requested at screening; range-of-motion assessments (goniometry) should be available.

Echocardiogram within 12 months is typically required to document cardiac involvement, particularly aortic root Z-score and valvular function.

Molecular confirmation of a pathogenic FBN2 variant is required to distinguish CCA from Marfan syndrome (FBN1) and avoid misclassification in trials.