Disease or Syndrome
sclerosteosis
Definitions related to sclerosteosis:
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An autosomal recessive form of craniotubular hyperostosis due to loss-of-function mutation(s) in the SOST gene, encoding sclerostin. Clinical features include tall stature, enlarged jaw and facial bones, and cranial nerve compression leading to hearing loss and facial palsy. About two-thirds of patients have syndactyly and/or nail malformations. Increased intracranial pressure due to the thickened calvaria and skull base can occur.NCI ThesaurusU.S. National Cancer Institute, 2021
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Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). (OMIM)Online Mendelian Inheritance in ManJohns Hopkins University, 2021
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Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and...National Center for Advancing Translational Sciences
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