Conditions / Genetic
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
info · Genetic
A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22.
Signs and symptoms
- Cleft palate
- Downslanted palpebral fissures
- Persistence of hemoglobin F
- Midface retrusion
- Microtia
- Conductive hearing impairment
- Increased mean corpuscular volume
- Sparse eyelashes
- Micrognathia
- Unilateral cryptorchidism
Also known as: DBA14