Hypomandibular faciocranial dysostosis

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Hypomandibular faciocranial dysostosis

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Hypomandibular faciocranial dysostosis?

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