Conditions / Syndrome
Treacher Collins syndrome 2
info · Syndrome
A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.
Signs and symptoms
- Micrognathia
- Microtia
- Downslanted palpebral fissures
- Malar flattening
- Conductive hearing impairment
- Hypoplasia of the zygomatic bone
- Microretrognathia
- Lower eyelid coloboma
- Cleft palate
- Delayed speech and language development