Santos–Mateus–Leal syndrome
id:
santos-mateus-leal-syndrome-250-7775977
title:
Santos–Mateus–Leal syndrome
text:
Santos–Mateus–Leal syndrome, also known as Hirschsprung's disease-deafness-polydactyly syndrome is a very rare autosomal recessive limb malformation which is characterized by Hirschsprung's disease, feet and hand polydactyly, unilateral renal agenesis, and congenital hearing loss. Only 2 cases have been described in medical literature. It was first discovered by Santos et al., when they described 2 siblings of the opposite sex born to consanguineous, first-cousin parents with the symptoms mentio
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Santos%E2%80%93Mateus%E2%80%93Leal_syndrome
date created:
date modified:
2023-11-05T04:34:06Z
main entity:
{"identifier":"Q55781934","url":"https://www.wikidata.org/entity/Q55781934"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/3/3e/Autorecessive.svg","width":1350,"height":1580}
fields total:
13
integrity:
15