Conditions / Genetic
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
info · Genetic
A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in
A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2.
Signs and symptoms
- Downslanted palpebral fissures
- Cleft palate
- Short stature
- Global developmental delay
- Midface retrusion
- Microtia
- Macrocytic anemia
- Micrognathia
- Epicanthus
- Broad neck
Also known as: DBA15