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

Rare Disease

spondyloepimetaphyseal dysplasia, Irapa type

MONDO:0010076

Also known as:SEMD, Irapa typeSEMDIT

Overview

A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.

GeneticsAutosomal recessive

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: Disproportionate short-trunk short stature, Limited elbow extension, Broad femoral neck, and Short palm and 18 more.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Broad femoral neck, Arthralgia, Excessive inward curve of the lower back (lumbar hyperlordosis)

Prognosis

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

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 7:06 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271650

Orphanet

European rare disease database

Orphanet:93351

GARD

Genetic and Rare Diseases Info Center

GARD:16819

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, Irapa type

Overview

Clinical Presentation

Prognosis

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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