Treacher-Collins syndrome
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
|