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skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

MONDO:0033682

Overview

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 very common findings: Bone and joint problems (abnormality of the skeletal system), Global developmental delay, Motor delay, and Severe platyspondyly; and common findings: Microcephaly, Abnormal thorax morphology, Brachydactyly, and Broad metacarpals and others. 95 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Global developmental delay, Intellectual disability, Hyporeflexia

Diagnosis

Biomarker and diagnostic research for skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very common features, 29 common features.

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

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 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome.

201 publications have been identified in PubMed for skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome. Kisho has analyzed 37 by research type. Research spans Review / Meta-Analysis (35%), Basic Science / Preclinical (35%), and Other (14%).

Research Type	Count	% of Total
Research summaries	13	35%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:508533

GARD

Genetic and Rare Diseases Info Center

GARD:22070

Questions for Your Care Team

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Kisho

skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications