Crouzon syndrome with acanthosis nigricans
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Crouzon syndrome with acanthosis nigricans is a disorder characterised by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.
Descrição
Crouzon syndrome with acanthosis nigricans is a disorder characterised by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.
The signs and symptoms of Crouzon syndrome with acanthosis nigricans overlap with those of a similar condition called Crouzon syndrome. Both conditions involve premature fusion of the skull bones, which affects the shape of the head and face. Other common features of both conditions include wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a small, beaked nose; and a flat or sunken appearance of the middle of the face (midface hypoplasia). Less common features that can occur in either disorder include an opening in the roof of the mouth (cleft palate), dental problems, or hearing loss. People with Crouzon syndrome or Crouzon syndrome with acanthosis nigricans usually have normal intelligence.
Crouzon syndrome with acanthosis nigricans is distinguished from Crouzon syndrome by several features, including skin abnormalities. Acanthosis nigricans is a skin condition characterised by thick, dark, velvety skin in body folds and creases, including the neck and underarms. People with Crouzon syndrome with acanthosis nigricans may also have other skin abnormalities; for example, scars in the thick, dark areas of skin are flat and pale. These scars are usually from surgical procedures that are commonly needed in affected individuals. Additionally, in some people with the condition, one or both nasal passages are narrowed (choanal stenosis) or completely blocked (choanal atresia), which can cause difficulty breathing. A buildup of fluid in the brain (hydrocephalus) can also occur. Nasal passage abnormalities and hydrocephalus are rare in Crouzon syndrome. Less common features of Crouzon syndrome with acanthosis nigricans include subtle changes in the bones of the spine (vertebrae), abnormalities of the finger bones, and noncancerous growths in the jaw called cementomas.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
CAN
Crouzonodermoskeletal syndrome
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Leitura adicional e referências
- Crouzon syndrome with acanthosis nigricans; MedlinePlus, National Library of Medicine.
- Arnaud-Lopez L, Fragoso R, Mantilla-Capacho J, Barros-Nunez P. Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet. 2007 Nov;72(5):405-10. doi: 10.1111/j.1399-0004.2007.00884.x.
- Chen F, Degnin C, Laederich M, Horton WA, Hristova K. The A391E mutation enhances FGFR3 activation in the absence of ligand. Biochim Biophys Acta. 2011 Aug;1808(8):2045-50. doi: 10.1016/j.bbamem.2011.04.007. Epub 2011 Apr 22.
- Chen F, Sarabipour S, Hristova K. Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. PLoS One. 2013;8(2):e56521. doi: 10.1371/journal.pone.0056521. Epub 2013 Feb 20.
- Cohen MM Jr. Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. Am J Med Genet. 1999 May 7;84(1):74. No abstract available.
- Mir A, Wu T, Orlow SJ. Cutaneous features of Crouzon syndrome with acanthosis nigricans. JAMA Dermatol. 2013 Jun;149(6):737-41. doi: 10.1001/jamadermatol.2013.3019.
- Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet. 2001 Jan 1;98(1):75-91.
- Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387.
- Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998 Oct 20 [updated 2020 Apr 30]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1455/
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