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

Rare Disease

spondyloepiphyseal dysplasia tarda, autosomal recessive

MONDO:0010072

Also known as:autosomal recessive spondyloepiphyseal dysplasia tarda

Overview

Autosomal recessive form of spondyloepiphyseal dysplasia tarda.

GeneticsAutosomal recessive

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: Short stature, Flattened metacarpal heads, Platyspondyly, and Flattened metatarsal heads and 3 more.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Joint wear and tear (osteoarthritis), Hip osteoarthritis

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 spondyloepiphyseal dysplasia tarda, autosomal recessive.

1 publication has been identified in PubMed for spondyloepiphyseal dysplasia tarda, autosomal recessive. Research spans Case Report / Case Series (100%).

Recent Publications

Zahfir I (2026). [PMID: 41320882](https://pubmed.ncbi.nlm.nih.gov/41320882/). *Mol Imaging Radionucl Ther*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 12:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271600

GARD

Genetic and Rare Diseases Info Center

GARD:15237

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

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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