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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.
Crouzonodermoskeletal syndrome is rare; this condition is seen in about 1 person per million.
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.
Changes in this gene are associated with 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.
These resources address the diagnosis or management of Crouzonodermoskeletal syndrome and may include treatment providers.
You might also find information on the diagnosis or management of Crouzonodermoskeletal syndrome in Educational resources (http://ghr.nlm.nih.gov/condition/crouzonodermoskeletal-syndrome/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/crouzonodermoskeletal-syndrome/show/Patient+support).
General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).
To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
You may find the following resources about Crouzonodermoskeletal syndrome helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/gard).
acanthosis nigricans ; autosomal ; autosomal dominant ; bulging eyes ; cell ; craniosynostosis ; gene ; inherited ; mutation ; pigmentation ; protein ; skin pigmentation ; strabismus ; syndrome ; tissue ; upper jaw ; x-rays
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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.