Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Crouzon syndrome

Crouzon syndrome is an autosomal dominant disorder caused by mutations of the FGFR3 gene.

Symptoms

Acanthosis nigricans
Among several other dysmorphic features acanthosis nigricans is typical of Crouzon syndrome, in particular when caused by FGFR3 mutations.

Systematic

Bone dysplasia
Achondroplasia
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Cherubism
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
FGFR3
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

References:

1.

Meyers GA et al. (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

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2.

Arnaud-López L et al. (2007) Crouzon with acanthosis nigricans. Further delineation of the syndrome.

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3.

None (1992) Cutaneous findings in craniofacial malformation syndromes.

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4.

Breitbart AS et al. (1989) Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon.

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5.

Reddy BS et al. (1985) An unusual association of acanthosis nigricans and Crouzon's disease--a case report.

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6.

Wilkes D et al. (1996) A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

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7.

None (1999) Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology.

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8.

Schweitzer DN et al. (2001) Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.

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9.

OMIM.ORG article

Omim 612247 [^]
10.

Orphanet article

Orphanet ID 207 [^]
11.

Wikipedia article

Wikipedia EN (Crouzon_syndrome) [^]
Update: April 29, 2019