Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Apert syndrome

Apert syndrome is an autosomal dominant disorder caused by mutations of the FGFR2 gene.

Symptoms

Syndactyly
In Apert syndrome syndactyly is accompanied by a characteristic shape of the skull (acrocephaly/stenocephaly).

Systematic

Bone dysplasia
Achondroplasia
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
FGFR2
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
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.

Moloney DM et. al. (1996) Exclusive paternal origin of new mutations in Apert syndrome.

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2.

Wilkie AO et. al. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

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3.

Slaney SF et. al. (1996) Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

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4.

Oldridge M et. al. (1997) Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

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5.

Oldridge M et. al. (1999) De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

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6.

Lajeunie E et. al. (1999) Clinical variability in patients with Apert's syndrome.

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7.

Glaser RL et. al. (2003) The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.

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8.

Mantilla-Capacho JM et. al. (2005) Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.

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9.

Andreou A et. al. (2006) Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg).

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10.

Miraoui H et. al. (2010) Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.

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11.

None (1977) Genetic perspectives on craniosynostosis and syndromes with craniosynostosis.

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12.

Cohen MM et. al. (1992) Birth prevalence study of the Apert syndrome.

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13.

Kreiborg S et. al. (1992) Cervical spine in the Apert syndrome.

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14.

Lefort G et. al. (1992) Apert syndrome with partial preaxial polydactyly.

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15.

None (1991) Apert syndrome. Classification and pathologic anatomy of limb anomalies.

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16.

Cohen MM et. al. (1990) The central nervous system in the Apert syndrome.

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17.

None (1989) Apert syndrome with polysyndactyly of the feet.

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18.

Sidhu SS et. al. (1988) Recessive inheritance of apparent Apert syndrome with polysyndactyly?

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19.

Patton MA et. al. (1988) Intellectual development in Apert's syndrome: a long term follow up of 29 patients.

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20.

None (1988) Male transmission of Apert syndrome.

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21.

Maroteaux P et. al. (1987) Apparent Apert syndrome with polydactyly: rare pleiotropic manifestation or new syndrome?

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22.

None (1986) Germinal mosaicism in Apert syndrome.

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23.

Solomon LM et. al. (1970) Pilosebaceous abnormalities in Apert's syndrome.

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24.

Erickson JD et. al. (1974) A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome.

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25.

Hoover GH et. al. (1970) The hand and Apert's syndrome.

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26.

Dodson WE et. al. (1970) Acrocephalosyndactylia associated with a chromosomal translocation. 46,XX, t (2p-; Cq+).

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27.

Schauerte EW et. al. (1966) Progressive synosteosis in Apert's syndrome (acrocephalosyndactyly), with a description of roentgenographic changes in the feet.

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28.

Leonard CO et. al. (1982) Prenatal fetoscopic diagnosis of the Apert syndrome.

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29.

Cohen MM et. al. (1995) Cutaneous manifestations of Apert syndrome.

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30.

Cohen MM et. al. (1995) Hands and feet in the Apert syndrome.

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31.

Park WJ et. al. (1995) Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

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32.

Cinalli G et. al. (1995) Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture.

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33.

Pelz L et. al. (1994) Esophageal stenosis in acrocephalosyndactyly type I.

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34.

Czeizel AE et. al. (1993) Birth prevalence study of the Apert syndrome.

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35.

Cohen MM et. al. (1993) Visceral anomalies in the Apert syndrome.

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36.

Renier D et. al. (1996) Prognosis for mental function in Apert's syndrome.

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37.

Tolarova MM et. al. (1997) Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome.

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38.

Lomri A et. al. (1998) Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.

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39.

Chang CC et. al. (1998) Prenatal diagnosis of Apert syndrome.

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40.

von Gernet S et. al. (2000) Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

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41.

DODGE HW et. al. (1959) Craniofacial dysostosis: Crouzon's disease.

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42.

None (1960) Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases.

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43.

Quintero-Rivera F et. al. (2006) Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

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44.

Khong JJ et. al. (2006) Ophthalmic findings in apert syndrome prior to craniofacial surgery.

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45.

Hill CA et. al. (2013) Postnatal brain and skull growth in an Apert syndrome mouse model.

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Update: Sept. 26, 2018