Treacher-Collins syndrome

Disease Export to PDF
Name:
Treacher-Collins syndrome
Description:
A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.
ORPHAcode:
861
Synonyms:
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14