A Brief Note On The, Autosomal Recessive Craniotubular Craniotubular Hyperostosis

1471 Words6 Pages
Ali Carmitchel
Genetics- Colorado Mountain College
Final Research Paper
Sclerosteosis, MIM 269500

Abstract
Sclerosteosis (SCL) is a severe, progressive, autosomal-recessive craniotubular hyperostosis (MIM 269500). The determining gene has been identified as SOST. Sclerosteosis is a sever disorder placing significant hardship on all those who suffer from it. The disorder is characterized by increased bone density. The SOST gene codes for Sclerostin, and a mutation in the gene produces Sclerosteosis. This disorder results in bone overgrowth through life, leading to distortions in facial structure, and entrapment of the 7th cranial nerve. Because of the distortion in facial bones, the cranial nerves can become entrapped, increasing the risk for potentially lethal elevation of intracranial pressure. Recognizing the symptoms is the primary means of diagnosing and treating the disorder.

Carmitchel 2
Introduction

Sclerosteosis (SOST1: MIM 269500, is a recessive autosomal dysplasia of the skeleton. Throughout the life of the person effected, there is excessive bone overgrowth, primarily in cranial and tubular bones, which causes a distorted look of the face and head. It also effects cranial nerves and has been known to cause many problematic pains (migraines, intense headaches, jaw problems, and more). This disease is very rare and is mostly found in the population of South Africa, though other cases have been reported in the USA, Brazil, Turkey, and a few

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