Cranioectodermal dysplasia
Cranioectodermal dysplasia (pronounced: kray-nee-oh-ek-toh-der-muhl dis-play-zhuh), also known as Sensenbrenner syndrome, is a rare genetic disorder that primarily affects the skeleton, skin, and hair.
Etymology
The term "Cranioectodermal dysplasia" is derived from the Greek words "kranion" (meaning skull), "ektos" (outside), and "derma" (skin). This refers to the disorder's characteristic abnormalities involving the head (cranium), outer layer of the body (ectoderm), and the development of certain tissues (dysplasia).
Symptoms
The symptoms of Cranioectodermal dysplasia can vary greatly among individuals. However, common symptoms include craniosynostosis (premature fusion of the skull bones), narrow and/or bulging forehead, micrognathia (small lower jaw), hypodontia (missing teeth), and ectodermal dysplasia (abnormal development of the skin, hair, nails, teeth, or sweat glands).
Causes
Cranioectodermal dysplasia is caused by mutations in the IFT122, WDR35, IFT43, or WDR19 genes. These genes are involved in the formation and function of cilia, which are small, finger-like projections on the surface of cells that play a key role in cell division and signaling.
Diagnosis
Diagnosis of Cranioectodermal dysplasia is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include genetic testing, imaging studies, and biopsy of the skin or hair.
Treatment
There is currently no cure for Cranioectodermal dysplasia. Treatment is symptomatic and supportive, and may include surgery to correct craniosynostosis, dental care for tooth abnormalities, and dermatological care for skin problems.
See also
External links
- Medical encyclopedia article on Cranioectodermal dysplasia
- Wikipedia's article - Cranioectodermal dysplasia
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