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craniofacial dysplasia - osteopenia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniofacial dysplasia - osteopenia syndrome

MONDO:0012634

Also known as:Hamamy syndromeHMMShypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility

Overview

GeneticsAutosomal recessive · IRX5 (chr 16)

ResearchLimited published research (1 article)

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 always present findings: Sparse eyebrow, Moderate global developmental delay, Smooth philtrum, and Hypertelorism and others; and very common findings: Inguinal hernia, Mild bone density loss (osteopenia), and Thin upper lip vermilion. 53 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	5	Long fingers, Long toe, Tapered finger

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IRX5 encodes iroquois homeobox 5 (483 aa). Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. Highest expression in Skin Not Sun Exposed Suprapubic (29.1 TPM) and Skin Sun Exposed Lower leg (24.0 TPM).

Craniofacial dysplasia - osteopenia syndrome is associated with mutations in the IRX5 gene on chromosome 16.

IRX5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for IRX5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 31 always present features, 3 very common features, 13 common features.

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for craniofacial dysplasia - osteopenia syndrome.

1 publication has been identified in PubMed for craniofacial dysplasia - osteopenia syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Özer S (2024). [PMID: 38810252](https://pubmed.ncbi.nlm.nih.gov/38810252/). *J Craniofac Surg*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611174

Orphanet

European rare disease database

Orphanet:314555

GARD

Genetic and Rare Diseases Info Center

GARD:17422

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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craniofacial dysplasia - osteopenia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

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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