Craniofrontonasal dysplasia
Craniofrontonasal dysplasia (pronunciation: kra-ni-o-fron-to-na-zal dis-pla-zia) is a rare genetic disorder that primarily affects females and is characterized by abnormalities in the growth and development of the head, face, and extremities.
Etymology
The term Craniofrontonasal dysplasia is derived from the Greek words kranion (skull), frontis (forehead), nasus (nose), and dysplasia (abnormal growth or development).
Symptoms
The symptoms of Craniofrontonasal dysplasia can vary greatly among affected individuals. Some common symptoms include craniosynostosis (premature fusion of the skull bones), hypertelorism (widely spaced eyes), frontonasal dysplasia (abnormal development of the forehead and nose), and abnormalities of the hands and feet.
Causes
Craniofrontonasal dysplasia is caused by mutations in the EFNB1 gene. This gene provides instructions for making a protein called ephrin-B1, which is involved in the positioning of cells during embryonic development. Mutations in the EFNB1 gene disrupt the normal development of cells, leading to the characteristic features of Craniofrontonasal dysplasia.
Diagnosis
Diagnosis of Craniofrontonasal dysplasia is typically based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include genetic testing to identify mutations in the EFNB1 gene, and imaging studies such as computed tomography (CT) scans or magnetic resonance imaging (MRI) to visualize the abnormalities in the skull and facial bones.
Treatment
Treatment for Craniofrontonasal dysplasia is symptomatic and supportive, and may include surgical intervention to correct craniosynostosis, hypertelorism, and other physical abnormalities. Genetic counseling may also be beneficial for affected individuals and their families.
See also
External links
- Medical encyclopedia article on Craniofrontonasal dysplasia
- Wikipedia's article - Craniofrontonasal dysplasia
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