Hypomandibular faciocranial dysostosis

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

1790

OMIM code

241310

ICD10 code

Q75.4

ICD11 code

*Soruce