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TDO Syndrome
Overview A rare genetic disorder characterized by kinky hair, tooth enamel and bone abnormalities.[checkorphan.org]
Tricho-dento-osseous (TDO) syndrome is an autosomal dominant trait characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones[uncch.pure.elsevier.com]
Curly/kinky hair is present at birth in around 80% of patients, but around half of these patients loose the hair phenotype by adolescence.[rarediseases.info.nih.gov]
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Valinemia
It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com]
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Hereditary Koilonychia
Menke's kinky hair syndrome is caused by a defect in: Copper Transporting ATPase.[quizlet.com]
Menke's kinky hair syndrome is an x-linked recessive disorder caused by a mutation at Xq12 leading to defective intestinal copper transport.[quizlet.com]
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Hereditary Geniospasm
It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. 22q11.2 Deletion Syndrome May 12, 2018 by Peter Ciszewski[checkrare.com]
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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Página 351 - Menkes's kinky hair syndrome: an inherited defect in copper absorption with wide-spread effects. [books.google.es]
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Retinal Macular Dystrophy Type 2
It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com]
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Disorder of Catecholamine Synthesis
Their hair is sparse, coarse, steely, and depigmented, and appears twisted (hence Menkes’ kinky hair disease) or broken.[neuropathology-web.org]
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Spondyloepimetaphyseal Dysplasia Type Shohat
Página 351 - Menkes's kinky hair syndrome: an inherited defect in copper absorption with wide-spread effects. [books.google.es]
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Autosomal Dominant Spastic Ataxia Type 1
It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. 22q11.2 Deletion Syndrome May 12, 2018 by Peter Ciszewski[checkrare.com]
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Inherited Neuropathy
Those affected with GAN have characteristic curly kinky hair, everted feet and a crouched gait, which suggest the diagnosis in most cases.[ncbi.nlm.nih.gov]