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axial spondylometaphyseal dysplasia (SMDAX) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

axial spondylometaphyseal dysplasia

MONDO:0011211

Also known as:SMDAXSmD axialSmD, axial

Overview

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.

GeneticsAutosomal recessive · CFAP410 (chr 21)

OnsetCHILDHOOD

ResearchLimited published research (6 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: Rhizomelia, Reduced sperm motility, and Damage to the optic nerve (optic atrophy); and very common findings: Rod-cone dystrophy and Cone/cone-rod dystrophy. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Proximal femoral metaphyseal irregularity, Short femoral neck, Sideways curvature of the spine (scoliosis)

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.

CFAP410 encodes cilia and flagella associated protein 410 (256 aa). Plays a role in cilia formation and/or maintenance. Plays a role in the regulation of cell morphology and cytoskeletal organization. Involved in DNA damage repair Highest expression in Thyroid (46.0 TPM) and Pituitary (42.8 TPM).

Axial spondylometaphyseal dysplasia is associated with mutations in the CFAP410 gene on chromosome 21.

CFAP410 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CFAP410 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 2 very common features, 3 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 axial spondylometaphyseal dysplasia.

6 publications have been identified in PubMed for axial spondylometaphyseal dysplasia. Research spans Basic Science / Preclinical (67%), Case Report / Case Series (17%), and Epidemiology / Natural History (17%).

Recent Publications

Sornthai W (2025). [PMID: 39863786](https://pubmed.ncbi.nlm.nih.gov/39863786/). *Sci Rep*. [Epidemiology / Natural History]
Schmidt RE (2025). [PMID: 40246852](https://pubmed.ncbi.nlm.nih.gov/40246852/). *NPJ Genom Med*. [Basic Science / Preclinical]
Stadler A (2025). [PMID: 40018707](https://pubmed.ncbi.nlm.nih.gov/40018707/). *Front Cell Dev Biol*. [Basic Science / Preclinical]
De Decker M (2025). [PMID: 39703094](https://pubmed.ncbi.nlm.nih.gov/39703094/). *Brain*. [Basic Science / Preclinical]
Borchert GA (2024). [PMID: 39232248](https://pubmed.ncbi.nlm.nih.gov/39232248/). *Ophthalmic Genet*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602271

Orphanet

European rare disease database

Orphanet:168549

GARD

Genetic and Rare Diseases Info Center

GARD:8720

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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axial spondylometaphyseal dysplasia

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

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