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Crouzon syndrome is a genetic disorder that affects the development of the skull and face. It causes craniosynostosis, exophthalmos, hypertelorism, and other facial abnormalities. Learn about the causes, symptoms, diagnosis, and treatment of this condition.
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull).
A comprehensive list of over 6,000 known genetic disorders in humans, with their chromosome or gene involvement, type of mutation, and prevalence. The most common genetic disorders include color blindness, cystic fibrosis, hemophilia, sickle cell disease, and Tay–Sachs disease.
"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. 21 (1): 23–39. doi: 10.1210/edrv.21.1.0387. PMID 10696568.
Genetics. Mutations in the FGFR3 gene cause Crouzonodermoskeletal syndrome. The protein made by the FGFR3 gene is a receptor that plays a role in the development and maintenance of bone and brain tissue. Researchers do not know how a mutation in FGFR3 leads to the characteristic features of this disorder, but changes in the receptor appear to ...
FGFR3 is a protein that regulates bone growth and development and is involved in several skeletal disorders. Learn about its structure, function, alternative splicing, mutations and diseases such as achondroplasia, craniosynostosis and bladder cancer.
CIPA (congenital insensitivity to pain with anhidrosis) is a genetic condition that prevents the feeling of pain, temperature and sweating. It can cause severe complications such as seizures, infections, injuries, cognitive impairment and hyperthermia.
Dolichocephaly is a term for a long-headed shape of the head, which can be normal or pathological in humans and dogs. Learn about the causes, symptoms, and variations of dolichocephaly in different human populations and animal breeds.