Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome (pronunciation: kroo-zoh-noh-dur-moh-skel-i-tl sin-drohm) is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), skin abnormalities, and skeletal problems.
Etymology
The term "Crouzonodermoskeletal syndrome" is derived from the name of the French neurologist Octave Crouzon, who first described the condition in 1912, and the Greek words "derma" (skin) and "skeletos" (skeleton), referring to the primary areas affected by the syndrome.
Symptoms
The most common symptoms of Crouzonodermoskeletal syndrome include craniosynostosis, which can lead to abnormal head shape and potential developmental issues, skin abnormalities such as acanthosis nigricans, and various skeletal problems including scoliosis and arachnodactyly (abnormally long and slender fingers and toes).
Causes
Crouzonodermoskeletal syndrome is caused by mutations in the FGFR2 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue.
Diagnosis
Diagnosis of Crouzonodermoskeletal syndrome is typically based on a clinical evaluation, detailed patient history, and a variety of specialized tests. Genetic testing can confirm a diagnosis.
Treatment
Treatment for Crouzonodermoskeletal syndrome is symptomatic and supportive. This may include surgery to correct craniosynostosis, orthodontic treatment for dental issues, and physical therapy for skeletal problems.
See also
References
- National Organization for Rare Disorders. (n.d.). Crouzonodermoskeletal Syndrome. Retrieved from https://rarediseases.org/rare-diseases/crouzonodermoskeletal-syndrome/
- Genetics Home Reference. (n.d.). Crouzonodermoskeletal Syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/crouzonodermoskeletal-syndrome
External links
- Medical encyclopedia article on Crouzonodermoskeletal syndrome
- Wikipedia's article - Crouzonodermoskeletal syndrome
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