KEGG DISEASE: Crouzon syndrome

DISEASE: Crouzon syndrome

Entry

H01754                      Disease

Name

Crouzon syndrome

Subgroup

Crouzon syndrome with acanthosis nigricans (CAN)

Supergrp

Syndromic craniosynostoses [DS:H00458]

Description

Crouzon syndrome (CS) is an autosomal dominant disorder characterized by generalized craniosynostoses, maxillary hypoplasia, widely spaced but shallow orbits with prominent globes. Heterozygous mutations of FGFR2 cause three classical craniosynostosis syndromes, Apert, Crouzon and Pfeiffer. Crouzon syndrome is usually the mildest of the FGFR2-associated disorders and the clinical diagnosis is suggested by the combination of characteristic facies and absence of major abnormalities of the hands and feet. It has also been reported that a mutation of FGFR3 gene causes Crouzon syndrome with acanthosis nigricans (CAN).

See also H00458 Craniosynostosis.

Other DBs

ICD-11:

LD24.G1

MeSH:

D003394 C567382

OMIM:

123500 612247

Reference

PMID:21248745

Authors

Johnson D, Wilkie AO

Title

Craniosynostosis.

Journal

Eur J Hum Genet 19:369-76 (2011)
DOI:10.1038/ejhg.2010.235

Reference

PMID:24346169

Authors

Weiss AH, Phillips J, Kelly JP

Title

Crouzon syndrome: relationship of rectus muscle pulley location to pattern strabismus.

Journal

Invest Ophthalmol Vis Sci 55:310-7 (2014)
DOI:10.1167/iovs.13-13069

Reference

PMID:26362256 (FGFR2)

Authors

Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR

Title

FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

Journal

Hum Mol Genet 24:6699-710 (2015)
DOI:10.1093/hmg/ddv374

Reference

PMID:17935505 (FGFR3)

Authors

Arnaud-Lopez L, Fragoso R, Mantilla-Capacho J, Barros-Nunez P

Title

Crouzon with acanthosis nigricans. Further delineation of the syndrome.

Journal

Clin Genet 72:405-10 (2007)
DOI:10.1111/j.1399-0004.2007.00884.x

LinkDB

» Japanese version

DISEASE: Muenke syndrome

Entry

H01990                      Disease

Name

Muenke syndrome;
Muenke craniosynostosis

Supergrp

Syndromic craniosynostoses [DS:H00458]

Description

Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the mutation P250R in FGFR3 gene.