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About: SOFT syndrome     Goto   Sponge   NotDistinct   Permalink

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SOFT syndrome, also known for the name its acronym originates from: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, is a rare genetic disorder characterized by the presence of short stature, underdeveloped nails, facial dysmorphisms (such as long triangular face, down-slanting palpebral fissures, etc.), and hair sparcity across the body. It is caused by homozygous, autosomal recessive mutations in the gene, located in the short arm of chromosome 3. Less than 15 cases have been described in the medical literature.