Hypomandibular Faciocranial Dysostosis

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OMIM 57 241310 MESH via Orphanet 45 C537154 ICD10 via Orphanet 34 Q75.4 UMLS via Orphanet 73 C1855848

Orphanet 59 ORPHA1790 MedGen 42 C1855848 UMLS 72 C1855848

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1790DefinitionHypomandibular 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypomandibular Faciocranial Dysostosis is related to dysostosis and craniosynostosis. Affiliated tissues include eye, bone and tongue, and related phenotypes are low-set ears and recurrent respiratory infections

OMIM : ⁵⁷ Hypomandibular faciocranial syndrome consists of craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, severe mandibular hypoplasia, and various extracephalic anomalies (summary by Gorlin et al., 2001). (241310)

Clinical features from OMIM:

241310

Search Clinical Trials , NIH Clinical Center for Hypomandibular Faciocranial Dysostosis

Search GEO for disease gene expression data for Hypomandibular Faciocranial Dysostosis.