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Treacher-Collins-Franceschetti syndrome
Epidemiology:
- incidence of 1/50,000 live births
Pathology:
- disorder of craniofacial development
Genetics:
- autosomal dominant
- associated with defects in TCOF1
Clinical manifestations:
- anomalies are bilaterally symmetrical
- abnormalities of the ears
a) atresia of the external ear canals
b) malformation of the middle ear ossicles
c) conductive hearing loss
- lateral downward sloping of palpebral fissures, frequently with colobomas of the lower eyelids
- hypoplasia of the mandible & zygomatic bone
- cleft palate
Related
Treacher-Collins syndrome 2
treacle protein; treacher collins syndrome protein (TCOF1)
General
developmental disorder syndrome (multisystem disorder)
Database Correlations
OMIM 154500
References
OMIM :accession 154500