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spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type

MONDO:0012219

Overview

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 always present findings: Spondyloepiphyseal dysplasia. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Irregular vertebral endplates, Sideways curvature of the spine (scoliosis), Broad femoral neck

Prognosis

Phenotype severity distribution: 1 always present feature.

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609223

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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spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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