SOFT syndrome
id:
soft-syndrome-203-7016956
title:
SOFT syndrome
text:
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, and hair sparcity across the body. It is caused by homozygous, autosomal recessive mutations in the POC1A gene, located in the short arm of chromosome 3. Fewer than 15 cases have been described in the medical literature.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/SOFT_syndrome
date created:
date modified:
2023-12-02T21:02:15Z
main entity:
{"identifier":"Q55784387","url":"https://www.wikidata.org/entity/Q55784387"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15