Conditions / Genetic
acrofacial dysostosis Cincinnati type
info · Genetic
An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mu
An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.
Signs and symptoms
- Cavum septum pellucidum
- Hearing impairment
- Short nose
- Hydrocephalus
- Long palpebral fissure
- Vocal cord paralysis
- Laryngomalacia
- Nevus
- Deeply set eye
- Recurrent otitis media