Conditions / Syndrome
Treacher Collins syndrome 3
info · Syndrome
A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
Signs and symptoms
- Malar flattening
- Microtia
- Conductive hearing impairment
- Hypoplasia of the zygomatic bone
- Micrognathia
- Downslanted palpebral fissures
- Lower eyelid coloboma
- Cleft palate
- Mandibulofacial dysostosis