FaCD Online Syndrome Fact Sheet

Last updated: 03 Apr 2009

Name: Apert syndrome

Synonym: Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.

Mode of Inheritance: AD

Genes

FGFR2, mapped to 10q26

Tumor features (possible)

ovarian dysgerminoma
rhabdomyosarcoma
urinary bladder cancer

Non-tumor features

craniosynostosis
midface, flat/hypoplastic
syndactyly of fingers
syndactyly of toes

Comment

Apert syndrome is characterized by craniosynostosis, midface hypoplasia and striking syndactyly of hands and feet. Rouzier et al[1] reported a 13-year-old female with Apert syndrome who developed an ovarian dysgerminoma. A congenital embryonal rhabdomyosarcoma of the hand in a patient with Apert syndrome was reported by Cohen et al[2]. A low-grade papillary urothelial carcinoma was diagnosed in a 4-year-old girl with Apert syndrome[3].
Interestingly, somatic mutations have been identified in endometrial cancer that are identical to germline activating mutations in FGFR2 that cause Apert Syndrome[4]. Endometrial cancer has not been reported in Apert syndrome.

References

[1] Rouzier C et al. Ovarian dysgerminoma and Apert syndrome. Pediatr Blood Cancer. 2008 Mar;50(3):696-8.
[2] Cohen M, Ghosh L, Schafer ME. Congenital embryonal rhabdomyosarcoma of the hand and Apert's syndrome. The Journal of hand surgery 1987; 12(4):614-7.
[3] Andreou A, Lamy A, Layet V, Cailliez D, Gobet F, Pfister C, Menard M, Frebourg T. Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg). Am J Med Genet A. 2006 Oct 15;140(20):2245-7.
[4] Pollock PM, Gartside MG, Dejeza LC, Powell MA, Mallon MA, Davies H, Mohammadi M, Futreal PA, Stratton MR, Trent JM, Goodfellow PJ. Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Oncogene. 2007 Nov 1;26(50):7158-62