Congenital contractural arachnodactyly

CCA presents at birth with multiple joint contractures, arachnodactyly, and characteristic crumpled ears. Affected individuals may additionally exhibit progressive kyphoscoliosis, muscular hypoplasia, and a marfanoid habitus. The phenotypic spectrum is broad, with marked variability both between and within families. Presentations range from mild adult forms, characterised by a lean body habitus, subtle arachnodactyly, mild contractures, and minor ear anomalies, to rare severe neonatal forms with pronounced clinical features of CCA and additional severe cardiovascular and/or gastrointestinal anomalies. Aortic root dilatation has been reported in rare cases.

Due to insufficient data, no reliable statement on prevalence can currently be made.

CCA is inherited in an autosomal dominant manner.

Main differential diagnoses include:

• : lens (sub)luxation, high myopia, progressive aortic root dilatation, and absence of crumpled ears or joint contractures
• : hypertelorism, bifid uvula, cleft palate, and progressive aortic root dilatation

• Establishing the diagnosis: molecular genetic testing confirms the diagnosis and underlying genetic cause and helps differentiate congenital contractural arachnodactyly from other clinically overlapping connective tissue disorders.
• Clinical management: identification of a pathogenic FBN2 variant can inform clinical follow-up and support management, including monitoring for aortic root dilatation and progression of scoliosis, with care guided by the treating physicians in consultation with the affected individual.
• Family member testing: identification of the familial pathogenic FBN2 variant enables predictive testing of at-risk relatives and supports informed reproductive and clinical decision-making within the family

• Callewaert B, Loeys B. Congenital Contractural Arachnodactyly. 2019 Oct 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. PMID: . Available from:
• Tunçbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet Journal of Rare Diseases. 2006;1:20. doi: 10.1186/1750-1172-1-20. PMID: . PMCID: PMC1524931.
• Peeters S, De Kinderen P, Meester JAN, Verstraeten A, Loeys BL. The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. Human Mutation. 2022;43(7):815-831. doi: 10.1002/humu.24383. PMID: . PMCID: PMC9322447.