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craniometaphyseal dysplasia, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniometaphyseal dysplasia, autosomal recessive

MONDO:0009035

Also known as:autosomal recessive craniometaphyseal dysplasiaCMDRcraniometaphyseal dysplasia, autosomal recessive type

Overview

Autosomal recessive form of craniometaphyseal dysplasia.

GeneticsAutosomal recessive · GJA1 (chr 6)

ResearchLimited published research (2 articles)

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: Facial hyperostosis, Hypertelorism, and Depressed nasal ridge. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	5	Facial palsy, Facial hyperostosis, Coarse facial features

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.

GJA1 encodes gap junction protein alpha 1 (382 aa). Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells. Highest expression in Skin Not Sun Exposed Suprapubic (485.1 TPM) and Adrenal Gland (439.8 TPM).

Craniometaphyseal dysplasia, autosomal recessive is associated with mutations in the GJA1 gene on chromosome 6.

The GJA1 protein participates in p-S373-GJA1:p-S-ITGA5:ITGB1 (p-S373-Connexin-43:p-S-Integrin alpha5:Integrin beta1) transports ATP from the cytosol to the extracellular region pathway.

GJA1 is classified as a druggable target (Ion Channel category) with score 0.6.

Diagnosis

Genetic testing for GJA1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features.

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 craniometaphyseal dysplasia, autosomal recessive.

2 publications have been identified in PubMed for craniometaphyseal dysplasia, autosomal recessive. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Fujii Y (2025). [PMID: 39848944](https://pubmed.ncbi.nlm.nih.gov/39848944/). *Bone Res*. [Basic Science / Preclinical]
Lazea C (2024). [PMID: 38791606](https://pubmed.ncbi.nlm.nih.gov/38791606/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:218400

GARD

Genetic and Rare Diseases Info Center

GARD:1582

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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craniometaphyseal dysplasia, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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