KEGG DISEASE: Congenital contractural arachnodactyly

KEGG

DISEASE: Congenital contractural arachnodactyly

Entry

H00660                      Disease

Name

Congenital contractural arachnodactyly;
Beals syndrome

Supergrp

Distal arthrogryposis [DS:H00811]

Description

Congenital contractural arachnodactyly (CCA) or Beals syndrome is an autosomal dominant disorder characterized by a Marfan-like appearance and arachnodactyly. Most affected individuals have 'crumpled' ears, contractures of major joints, and camptodactyly. Additional features include muscular hypoplasia and scoliosis. In contrast to Marfan syndrome, CCA does not affect the aorta or the eyes.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H00660  Congenital contractural arachnodactyly

Gene

FBN2 [HSA:2201] [KO:K23342]

Comment

For Marfan syndrome, see H00653.

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M

Title

The molecular genetics of Marfan syndrome and related disorders.

Journal

J Med Genet 43:769-87 (2006)
DOI:10.1136/jmg.2005.039669

Reference

Authors

Robinson PN, Godfrey M

Title

The molecular genetics of Marfan syndrome and related microfibrillopathies.

Journal

J Med Genet 37:9-25 (2000)
DOI:10.1136/jmg.37.1.9

Reference

Authors

Putnam EA, Zhang H, Ramirez F, Milewicz DM

Title

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

Journal

Nat Genet 11:456-8 (1995)
DOI:10.1038/ng1295-456

Reference

Authors

Godfrey M

Title

Congenital Contractural Arachnodactyly

Journal

GeneReviews (1993)

LinkDB

» Japanese version

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