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hypomandibular faciocranial dysostosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypomandibular faciocranial dysostosis

MONDO:0009425

Overview

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.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Choanal stenosis, Coronal craniosynostosis, Malar flattening, and Hypoplasia of the maxilla and 6 more.

Organ System	Phenotype Count	Example Features
Head and neck	2	Coronal craniosynostosis, Hypoplasia of the maxilla
Heart and blood vessels

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:241310

Orphanet

European rare disease database

Orphanet:1790

GARD

Genetic and Rare Diseases Info Center

GARD:2907

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypomandibular faciocranial dysostosis

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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