Hypomandibular faciocranial dysostosis

MONDO:0009425

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.

Also known as: hypomandibular faciocranial dysostosis

0 clinical trials for this condition and its sub-types, 0 tagged with Hypomandibular faciocranial dysostosis itself.

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↑ Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (90)

Including sub-types (0) Tagged with Hypomandibular faciocranial dysostosis (0)

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