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spondyloepimetaphyseal dysplasia, Genevieve type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia, Genevieve type

MONDO:0012495

Also known as:SEMD, Geneviève typeSEMDGspondyloepimetaphyseal dysplasia, Camera-Genevieve type

Overview

A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

GeneticsAutosomal recessive · NANS (chr 9)

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: Short stature; and common findings: Brain shrinkage (cerebral atrophy). 48 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Seizure, Ataxia, Intellectual disability

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.

NANS encodes N-acetylneuraminate synthase (359 aa). Catalyzes the condensation of phosphoenolpyruvate (PEP) and N-acetylmannosamine 6-phosphate (ManNAc-6-P) to synthesize N-acetylneuraminate-9-phosphate (Neu5Ac-9-P). Highest expression in Prostate (35.8 TPM) and Colon Transverse (31.5 TPM).

Spondyloepimetaphyseal dysplasia, Genevieve type is caused by mutations in the NANS gene on chromosome 9.

The NANS protein participates in NANS converts ManNAc-6-P to Neu5Ac-9-P pathway.

NANS is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

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 spondyloepimetaphyseal dysplasia, Genevieve type.

1 publication has been identified in PubMed for spondyloepimetaphyseal dysplasia, Genevieve type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Koles K (2026). [PMID: 41708000](https://pubmed.ncbi.nlm.nih.gov/41708000/). *The Journal of biological chemistry*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610442

Orphanet

European rare disease database

Orphanet:168454

GARD

Genetic and Rare Diseases Info Center

GARD:10057

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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spondyloepimetaphyseal dysplasia, Genevieve type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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