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

Rare Disease

spondyloepiphyseal dysplasia tarda, autosomal dominant

MONDO:0008474

Also known as:autosomal dominant spondyloepiphyseal dysplasia tarda

Overview

Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.

GeneticsAutosomal dominant

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: Kyphoscoliosis, Irregular vertebral endplates, Avascular necrosis of the capital femoral epiphysis, and Barrel-shaped chest and 12 more.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Kyphoscoliosis, Irregular vertebral endplates, Avascular necrosis of the capital femoral epiphysis

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 dominant.

77 publications have been identified in PubMed for spondyloepiphyseal dysplasia tarda, autosomal dominant. Research spans Case Report / Case Series (35%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (26%).

Research Type	Count	% of Total
Patient case studies	27	35%

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 1:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:184100

GARD

Genetic and Rare Diseases Info Center

GARD:10624

Questions for Your Care Team

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spondyloepiphyseal dysplasia tarda, autosomal dominant

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spondyloepiphyseal dysplasia tarda, autosomal dominant

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications