Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

spondylometaphyseal dysplasia, Sedaghatian type (SMDS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondylometaphyseal dysplasia, Sedaghatian type

MONDO:0009593

Also known as:SMDSSedaghatian chondrodysplasialethal metaphyseal dysplasia

Overview

Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

GeneticsAutosomal recessive · GPX4 (chr 19)

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: Delayed epiphyseal ossification, Irregular tarsal bones, Rhizomelia, and Disproportionate short stature and 37 more.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Short finger, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of 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.

GPX4 encodes glutathione peroxidase 4 (197 aa). Essential antioxidant peroxidase that directly reduces phospholipid hydroperoxide even if they are incorporated in membranes and lipoproteins. Highest expression in Testis (1,682 TPM) and Adipose Subcutaneous (699.6 TPM).

Spondylometaphyseal dysplasia, Sedaghatian type is associated with mutations in the GPX4 gene on chromosome 19.

The GPX4 protein participates in GPX4-2 reduces 18(S)-HpEPE to 18(S)-HEPE, GPX4-2 reduces 18(R)-HpEPE to 18(R)-HEPE, and GPX4-2 reduces 17(S)-Hp-DHA to 17(S)-HDHA pathways.

GPX4 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for GPX4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:250220

Orphanet

European rare disease database

Orphanet:93317

GARD

Genetic and Rare Diseases Info Center

GARD:4993

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?

← Back to All Diseases

spondylometaphyseal dysplasia, Sedaghatian type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features