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Crouzon syndrome(CFD1)

MedGen UID:
443999
Concept ID:
C2931196
Disease or Syndrome
Synonyms: Craniofacial dysostosis; Craniofacial dysostosis type 1; CRANIOFACIAL DYSOSTOSIS, TYPE I; Crouzon craniofacial dysostosis; Crouzon disease; FGFR2-Related Craniosynostosis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): FGFR2 (10q26.13)
OMIM®: 123500
HPO: HP:0004439
Orphanet: ORPHA207

Disease characteristics

Excerpted from the GeneReview: FGFR-Related Craniosynostosis Syndromes
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings. [from GeneReviews]
Authors:
Nathaniel H Robin  |  Marni J Falk  |  Chad R Haldeman-Englert   view full author information

Additional descriptions

From OMIM
Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000).  http://www.omim.org/entry/123500
From GHR
Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few individuals with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. Individuals with Crouzon syndrome usually have normal intelligence.  https://ghr.nlm.nih.gov/condition/crouzon-syndrome

Conditions with this feature

Crouzon syndrome
MedGen UID:
1162
Concept ID:
C0010273
Disease or Syndrome
A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism.
Osteosclerosis - Stanescu type
MedGen UID:
140931
Concept ID:
C0432263
Disease or Syndrome
Potocki-Shaffer syndrome
MedGen UID:
318657
Concept ID:
C1832588
Disease or Syndrome
Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (605957) (summary by Swarr et al., 2010).

Professional guidelines

PubMed

Toriello HV, Meck JM; Professional Practice and Guidelines Committee.
Genet Med 2008 Jun;10(6):457-60. doi: 10.1097/GIM.0b013e318176fabb. PMID: 18496227Free PMC Article

Recent clinical studies

Etiology

Queiros C, Paré A, Louisy A, Listrat A, Travers N, Joly A, Laure B
World Neurosurg 2019 Sep;129:1-4. Epub 2019 May 29 doi: 10.1016/j.wneu.2019.05.207. PMID: 31152887
Lu X, Jorge Forte A, Sawh-Martinez R, Wu R, Cabrejo R, Steinbacher DM, Alperovich M, Alonso N, Persing JA
Plast Reconstr Surg 2019 Jun;143(6):1233e-1243e. doi: 10.1097/PRS.0000000000005643. PMID: 31136487
Engel M, Berger M, Hoffmann J, Kühle R, Rückschloss T, Ristow O, Freudlsperger C, Kansy K
J Craniomaxillofac Surg 2019 Mar;47(3):420-430. Epub 2018 Dec 31 doi: 10.1016/j.jcms.2018.11.028. PMID: 30642732
Fan J, Li Y, Jia R, Fan X
BMC Med Genet 2018 May 30;19(1):91. doi: 10.1186/s12881-018-0607-8. PMID: 29848297Free PMC Article
Yu W, Wang M, Yao K, Cai M, Sun H, Lu L, Zhu M, Lu X
Sleep Breath 2016 Sep;20(3):1119-29. Epub 2016 Jul 16 doi: 10.1007/s11325-016-1378-0. PMID: 27424047

Diagnosis

Eves D, O'Connor SJ, Boyle MA
J Pediatr Ophthalmol Strabismus 2018 Dec 19;55:e45-e48. doi: 10.3928/01913913-20181012-02. PMID: 30571838
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Lin Y, Gao H, Ai S, Eswarakumar JV, Li T, Liu B, Jiang H, Liu Y, Liu X, Li Y, Ni Y, Chen J, Lin Z, Liang X, Jin C, Huang X, Lu L, Liu Y
Mol Med Rep 2016 Sep;14(3):1941-6. Epub 2016 Jul 11 doi: 10.3892/mmr.2016.5497. PMID: 27430617Free PMC Article
Yu W, Wang M, Yao K, Cai M, Sun H, Lu L, Zhu M, Lu X
Sleep Breath 2016 Sep;20(3):1119-29. Epub 2016 Jul 16 doi: 10.1007/s11325-016-1378-0. PMID: 27424047
Li J, Li S
J Craniofac Surg 2016 Jul;27(5):1244-6. doi: 10.1097/SCS.0000000000002732. PMID: 27391494

Therapy

Selvan H, Sharma A, Dada T
BMJ Case Rep 2019 May 27;12(5) doi: 10.1136/bcr-2019-229853. PMID: 31138597
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Umezu T, Fujita N, Yagi M, Tsuji O, Nagoshi N, Ishii K, Nakamura M, Matsumoto M, Watanabe K
JBJS Case Connect 2017 Oct-Dec;7(4):e98. doi: 10.2106/JBJS.CC.17.00011. PMID: 29280899
Tay YC, Tan KH, Yeow VK
J Craniofac Surg 2013 May;24(3):e253-5. doi: 10.1097/SCS.0b013e3182869f40. PMID: 23714981
Ridgway EB, Ropper AE, Mulliken JB, Padwa BL, Goumnerova LC
J Neurosurg Pediatr 2010 Oct;6(4):368-71. doi: 10.3171/2010.8.PEDS10155. PMID: 20887111

Prognosis

Eves D, O'Connor SJ, Boyle MA
J Pediatr Ophthalmol Strabismus 2018 Dec 19;55:e45-e48. doi: 10.3928/01913913-20181012-02. PMID: 30571838
Fan J, Li Y, Jia R, Fan X
BMC Med Genet 2018 May 30;19(1):91. doi: 10.1186/s12881-018-0607-8. PMID: 29848297Free PMC Article
Coll G, Sakka L, Botella C, Pham-Dang N, Collet C, Zerah M, Arnaud E, Di Rocco F
World Neurosurg 2018 Jan;109:e460-e467. Epub 2017 Oct 10 doi: 10.1016/j.wneu.2017.09.208. PMID: 29024761
Yu W, Wang M, Yao K, Cai M, Sun H, Lu L, Zhu M, Lu X
Sleep Breath 2016 Sep;20(3):1119-29. Epub 2016 Jul 16 doi: 10.1007/s11325-016-1378-0. PMID: 27424047
Tahiri Y, Paliga JT, Vossough A, Bartlett SP, Taylor JA
J Oral Maxillofac Surg 2014 Jun;72(6):1173-9. Epub 2013 Nov 22 doi: 10.1016/j.joms.2013.11.015. PMID: 24480760

Clinical prediction guides

Engel M, Berger M, Hoffmann J, Kühle R, Rückschloss T, Ristow O, Freudlsperger C, Kansy K
J Craniomaxillofac Surg 2019 Mar;47(3):420-430. Epub 2018 Dec 31 doi: 10.1016/j.jcms.2018.11.028. PMID: 30642732
Fan J, Li Y, Jia R, Fan X
BMC Med Genet 2018 May 30;19(1):91. doi: 10.1186/s12881-018-0607-8. PMID: 29848297Free PMC Article
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Tong H, Liu L, Tang X, Song T, Yin N, Zhang Z, Zhao Z
J Craniofac Surg 2017 Sep;28(6):1573-1577. doi: 10.1097/SCS.0000000000003377. PMID: 28060091
Lin Y, Gao H, Ai S, Eswarakumar JV, Li T, Liu B, Jiang H, Liu Y, Liu X, Li Y, Ni Y, Chen J, Lin Z, Liang X, Jin C, Huang X, Lu L, Liu Y
Mol Med Rep 2016 Sep;14(3):1941-6. Epub 2016 Jul 11 doi: 10.3892/mmr.2016.5497. PMID: 27430617Free PMC Article

Recent systematic reviews

Stater BJ, Oomen KP, Modi VK
JAMA Otolaryngol Head Neck Surg 2015 Jan;141(1):73-7. doi: 10.1001/jamaoto.2014.2790. PMID: 25375853
Brown MS, Okada H, Valiathan M, Lakin GE
Cleft Palate Craniofac J 2015 Jul;52(4):471-9. Epub 2014 Oct 2 doi: 10.1597/14-005R. PMID: 25275537

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