Crouzonodermoskeletal syndrome

Reviewed June 2006

What is Crouzonodermoskeletal syndrome?

Crouzonodermoskeletal syndrome is a disorder characterized 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 Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syndrome. Common features include premature fusion of the skull bones, which affects the shape of the head and face; wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a small, beaked nose; and an underdeveloped upper jaw. People with Crouzon syndrome or Crouzonodermoskeletal syndrome are usually of normal intelligence.

Several features distinguish Crouzonodermoskeletal syndrome from Crouzon syndrome. People with Crouzonodermoskeletal syndrome have acanthosis nigricans, a skin condition characterized by thick, dark, velvety skin in body folds and creases, including the neck and underarms. In addition, subtle changes may be seen in the bones of the spine (vertebrae) on x-rays. Noncancerous growths called cementomas may develop in the jaw during young adulthood.

How common is Crouzonodermoskeletal syndrome?

Crouzonodermoskeletal syndrome is rare; this condition is seen in about 1 person per million.

What genes are related to Crouzonodermoskeletal syndrome?

Mutations in the FGFR3 gene cause Crouzonodermoskeletal syndrome.

The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. It remains unclear how a mutation in the FGFR3 gene leads to the characteristic features of Crouzonodermoskeletal syndrome. This genetic change appears to disrupt the normal growth of skull bones and affect skin pigmentation.

How do people inherit Crouzonodermoskeletal syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. More commonly, this condition results from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Where can I find information about treatment for Crouzonodermoskeletal syndrome?

You may find information on treatment or management of Crouzonodermoskeletal syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about Crouzonodermoskeletal syndrome?

You may find the following resources about Crouzonodermoskeletal syndrome helpful. These materials are written for the general public.

MedlinePlus - Health information
- Encyclopedia: Acanthosis Nigricans (http://www.nlm.nih.gov/medlineplus/ency/article/000852.htm)
- Encyclopedia: Craniosynostosis (http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm)
- Health Topic: Facial Injuries and Disorders (http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html)
- Health Topic: Head and Brain Malformations (http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html)
Additional NIH Resources - National Institutes of Health
National Institute of Neurological Disorders and Stroke (http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm)
Educational resources - Information pages
- Center for Craniofacial Development and Disorders, Johns Hopkins Medicine (http://www.hopkinsmedicine.org/craniofacial/Education/Article.cfm?ArticleID=65&Source=Physician)
- Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=207)
- Seattle Children's Hospital and Regional Medical Center (http://craniofacial.seattlechildrens.org/conditions_treated/crouzon.asp)
- UC Davis Children's Hospital (http://www.ucdmc.ucdavis.edu/children/clinical_services/cleft_craniofacial/anomalies/crouzon.html)
Patient support - For patients and families
- Children's Craniofacial Association (http://www.ccakids.com)
- Let's Face It (http://www.dent.umich.edu/faceit/)
- Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/craniofa.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis)
Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=15665)
ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22Crouzonodermoskeletal+syndrome%22+OR+%22Craniofacial+Dysostosis%22+OR+%22Crouzon%27s+Disease%22+OR+%22Crouzons+Disease%22+OR+%22Craniosynostosis%22+OR+%22Crouzon+Disease%22)
PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((crouzonodermoskeletal+syndrome)+OR+(crouzon+syndrome+with+acanthosis+nigricans))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=3600+Days)
OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123500)

What other names do people use for Crouzonodermoskeletal syndrome?

Crouzon syndrome with acanthosis nigricans

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Crouzonodermoskeletal syndrome?

See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Crouzonodermoskeletal syndrome?

acanthosis nigricans ; autosomal ; autosomal dominant ; bulging eyes ; cell ; cementoma ; craniosynostosis ; gene ; mutation ; new mutation ; pigmentation ; protein ; sign ; skin pigmentation ; strabismus ; symptom ; syndrome ; tissue ; vertebra ; x-rays

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

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. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10213050)
Gene Review (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis)
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. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11426459)
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. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10696568)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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