Keutel syndrome
id:
keutel-syndrome-292-10831436
title:
Keutel syndrome
text:
Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation. Individuals with KS often present with peripheral pulmonary stenosis, brachytelephalangism, sloping forehead, midface hypoplasia, and receding chin. It is associated with abnormalities in the gene coding for matrix gla protein
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Keutel_syndrome
date created:
date modified:
2024-01-09T17:52:10Z
main entity:
{"identifier":"Q6395632","url":"https://www.wikidata.org/entity/Q6395632"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/3/3e/Autorecessive.svg","width":1350,"height":1580}
fields total:
13
integrity:
15