hypomandibular faciocranial dysostosis https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis https://www.malacards.org/card/hypomandibular_faciocranial_dysostosis MEDGEN:343427 OMIM:241310 hypomandibular faciocranial dysostosis GARD:0002907 SCTID:721845005 UMLS:C1855848 Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. MONDO:0009425 Orphanet:1790 MESH:C537154 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome