Conditions / Syndrome
Treacher Collins syndrome 1
info · Syndrome
A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.
Signs and symptoms
- Absent eyelashes
- Abnormal pinna morphology
- Lower eyelid coloboma
- Downslanted palpebral fissures
- Micrognathia
- Malar flattening
- Conductive hearing impairment
- Atresia of the external auditory canal
- Microtia
- Upper eyelid coloboma