KEGG DISEASE: Craniofrontonasal syndrome

KEGG

DISEASE: Craniofrontonasal syndrome

Entry

H01992                      Disease

Name

Craniofrontonasal syndrome;
Craniofrontonasal dysplasia

Supergrp

Syndromic craniosynostoses [DS:H00458]

Description

Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by loss-of-function mutations of EFNB1. CFNS is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities. It is a very peculiar X-linked syndrome because females are affected whereas male carriers show no or only mild abnormalities.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H01992  Craniofrontonasal syndrome

Gene

EFNB1 [HSA:1947] [KO:K05463]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO

Title

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Journal

Hum Mol Genet 22:1654-62 (2013)
DOI:10.1093/hmg/ddt015

Reference

Authors

Wieacker P, Wieland I

Title

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.

Journal

Mol Genet Metab 86:110-6 (2005)
DOI:10.1016/j.ymgme.2005.07.017

LinkDB

» Japanese version

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