KEGG DISEASE: Trismus-pseudocamptodactyly syndrome

KEGG

DISEASE: Trismus-pseudocamptodactyly syndrome

Entry

H00872                      Disease

Name

Trismus-pseudocamptodactyly syndrome;
Hecht-Beals syndrome;
Dutch-Kentucky syndrome

Supergrp

Distal arthrogryposis [DS:H00811]

Description

Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly of the fingers that is apparent only while attempting dorsiflexion of the wrist (pseudocamptodactyly).

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H00872  Trismus-pseudocamptodactyly syndrome

Gene

MYH8 [HSA:4626] [KO:K24220]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ

Title

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.

Journal

Am J Med Genet A 140:2387-93 (2006)
DOI:10.1002/ajmg.a.31495

Reference

Authors

Carlos R, Contreras E, Cabrera J

Title

Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review.

Journal

Oral Dis 11:186-9 (2005)
DOI:10.1111/j.1601-0825.2005.01005.x

LinkDB

» Japanese version

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