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Article

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2.

European journal of medical genetics - 1 Mar 2021

Kloth Katja, Neu Axel, Rau Isabella, Hülsemann Wiebke, Kutsche Kerstin, Volk Alexander E

Abstract excerpt

Fibrillin-2, encoded by FBN2, plays an important role in the early process of elastic fiber assembly. To date, heterozygous pathogenic variants in FBN2 have been shown to cause congenital contractural arachnodactyly (CCA; Beals-Hecht syndrome). Classical CCA is characterized by long and slender fingers and toes, ear deformities, joint contractures at birth, clubfeet, muscular hypoplasia and often tall stature. In...

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PMID: 33571691
DOI: 10.1016/j.ejmg.2021.104161

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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