Hypomandibular Faciocranial Dysostosis

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OMIM 58 241310 MESH via Orphanet 46 C537154 ICD10 via Orphanet 35 Q75.4 UMLS via Orphanet 75 C1855848

Orphanet 60 ORPHA1790 MedGen 43 C1855848 SNOMED-CT via HPO 70 11296007 13649004 14582003 17541006 18265008 18910001 246799009 246800008 249310005 253366007 253736003 258211005 28740008 306963008 32958008 386806002 405752007 44295002 57219006 63567004 70142008 708670007 74788000 83330001 86203003 87979003 95515009 more UMLS 74 C1855848

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1790Disease definitionHypomandibular 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. Affiliated tissues include eye and tongue, and related phenotypes are low-set ears and recurrent respiratory infections

OMIM : ⁵⁸ 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.