Conditions / Syndrome
Treacher Collins syndrome 4
info · Syndrome
A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14.
Signs and symptoms
- Downslanted palpebral fissures
- Malar flattening
- Feeding difficulties in infancy
- Conductive hearing impairment
- Micrognathia
- Cleft palate
- Lower eyelid coloboma
- Respiratory failure requiring assisted ventilation
- Choanal stenosis
- Facial asymmetry