Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
id:
tibial-hemimelia-polysyndactyly-triphalangeal-thumb-syndrome-251-15228839
title:
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
text:
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic limb malformation syndrome which is characterized by thumb triphalangy, polysyndactyly of the hand and foot, and hypoplasia/aplasia of the tibia bone. Additional features include short stature, radio-ulnar synostosis, ectrodactyly and abnormalities of the carpals and metatarsals. Only 19 affected families worldwide have been recorded in medical literature. It is associated with a heterozygous base pair substitution of
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Tibial_hemimelia-polysyndactyly-triphalangeal_thumb_syndrome
date created:
date modified:
2024-02-15T12:42:54Z
main entity:
{"identifier":"Q56014402","url":"https://www.wikidata.org/entity/Q56014402"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/4/45/Tibial_hemimelia-polysyndactyly-triphalangeal_thumb_syndrome.png","width":775,"height":802}
fields total:
13
integrity:
15