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spondyloepiphyseal dysplasia tarda with characteristic facies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepiphyseal dysplasia tarda with characteristic facies

MONDO:0010815

Overview

GeneticsAutosomal recessive

ResearchLimited published research (9 articles)

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: Microcephaly, Wide nasal bridge, Global developmental delay, and Flattened knee epiphyses and 6 more.

Organ System	Phenotype Count	Example Features
Head and neck	3	Microcephaly, Thick lower lip vermilion, Thick upper lip vermilion

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 with characteristic facies.

9 publications have been identified in PubMed for spondyloepiphyseal dysplasia tarda with characteristic facies. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (22%), and Basic Science / Preclinical (22%).

Recent Publications

Saeki N (2026). [PMID: 40995872](https://pubmed.ncbi.nlm.nih.gov/40995872/). *Dev Dyn*. [Review / Meta-Analysis]
Kobari Y (2025). [PMID: 40524567](https://pubmed.ncbi.nlm.nih.gov/40524567/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Rauch F (2025). [PMID: 40986183](https://pubmed.ncbi.nlm.nih.gov/40986183/). *Adv Ther*. [Epidemiology / Natural History]
Hopkins C (2025). [PMID: 40367355](https://pubmed.ncbi.nlm.nih.gov/40367355/). *J Bone Miner Res*. [Basic Science / Preclinical]
Bovis M (2025). [PMID: 40523612](https://pubmed.ncbi.nlm.nih.gov/40523612/). *J Stomatol Oral Maxillofac Surg*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600093

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 with characteristic facies

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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