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short-rib thoracic dysplasia 21 without polydactyly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short-rib thoracic dysplasia 21 without polydactyly

MONDO:0030356

Also known as:SRTD21

Overview

GeneticsAutosomal recessive · KIAA0753 (chr 17)

OnsetANTENATAL

ResearchLimited published research (2 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 always present findings: Thoracic hypoplasia, Brachydactyly, Low muscle tone (hypotonia), and Disproportionate short-limb short stature and others; and common findings: Flexion contracture, Small pituitary gland, Flat face, and Trident pelvis and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Enlarged brain ventricles (ventriculomegaly), Delayed speech and language development, Delayed gross motor development

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KIAA0753 encodes KIAA0753 (967 aa). Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2. Highest expression in Esophagus Muscularis (26.9 TPM) and Testis (24.8 TPM).

Short-rib thoracic dysplasia 21 without polydactyly is associated with mutations in the KIAA0753 gene on chromosome 17.

KIAA0753 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KIAA0753 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 always present features, 13 common features.

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 short-rib thoracic dysplasia 21 without polydactyly.

2 publications have been identified in PubMed for short-rib thoracic dysplasia 21 without polydactyly. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Aarts EM (2026). [PMID: 41715205](https://pubmed.ncbi.nlm.nih.gov/41715205/). *Genome Biol*. [Review / Meta-Analysis]
Orlova M (2024). [PMID: 39092430](https://pubmed.ncbi.nlm.nih.gov/39092430/). *Front Genet*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619479

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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short-rib thoracic dysplasia 21 without polydactyly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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