Pediatrics · Pediatrics / Pediatric genetics
Treacher Collins syndrome
also: Mandibulofacial dysostosis
Craniofacial malformation with downslanting eyes and hearing loss.
- Specialty
- Pediatrics
- Subspecialty
- Pediatrics / Pediatric genetics
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- POLR1C, POLR1D, TCOF1
- Alternative names & eponyms
- Mandibulofacial dysostosis
Etiology & mechanism
Impaired ribosome biogenesis causing neural crest apoptosis.
Gene(s) involved (3)
Symptoms & signs (6)
In plain terms, someone with Treacher Collins syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Stickler syndrome
cleft palate, micrognathia
1 shared
Apert syndrome
cleft palate
1 shared
Bamforth–Lazarus syndrome
cleft palate
1 shared
Cat eye syndrome
downslanting palpebral fissures
1 shared
Diamond–Blackfan anemia
cleft palate
1 shared
DiGeorge syndrome
cleft palate
1 shared
Edwards syndrome
micrognathia
1 shared
Emanuel syndrome
cleft palate
1 shared
Hay–Wells syndrome
cleft palate
1 shared
Kallmann syndrome
cleft palate
Shares genes with
None.
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