RecruitingNCT06720883
Connective Tissue
Congenital Contractural Arachnodactyly
Also known as Beals syndrome, Beals-Hecht syndrome, FBN2 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
1
studies recruiting now
as of 7 Sept 2026
2
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
6 Dec 2024
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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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 hipsArachnodactyly (long, slender fingers and toes)Dolichostenomelia (long, slender limbs relative to trunk)Progressive scoliosisCrumpled or abnormally folded ear helicesMitral valve prolapseMarfanoid body habitus with tall stature
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Congenital Contractural Arachnodactyly. Not eligibility rules; those are set by each study.
- 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.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).