Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

short-rib thoracic dysplasia 20 with polydactyly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short-rib thoracic dysplasia 20 with polydactyly

MONDO:0044328

Also known as:SRTD20

Overview

A group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof.

GeneticsAutosomal recessive · INTU (chr 4)

OnsetCONGENITAL

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 always present findings: Fibular hypoplasia, Anal atresia, Wide anterior fontanel, and Decreased calvarial ossification and others; and common findings: Complete atrioventricular canal defect, Septate vagina, Natal tooth, and Tetralogy of Fallot. 42 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft lip, Cleft palate

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.

INTU encodes inturned planar cell polarity protein (942 aa). Plays a key role in ciliogenesis and embryonic development. Highest expression in Ovary (12.0 TPM) and Nerve Tibial (11.8 TPM).

Short-rib thoracic dysplasia 20 with polydactyly is associated with mutations in the INTU gene on chromosome 4.

INTU is classified as a druggable target (Cell Surface category) with score 52.2.

Diagnosis

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

Prognosis

Phenotype severity distribution: 15 always present features, 4 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 20 with polydactyly.

1 publication has been identified in PubMed for short-rib thoracic dysplasia 20 with polydactyly. Research spans Case Report / Case Series (100%).

Recent Publications

Singh S (2024). [PMID: 38702430](https://pubmed.ncbi.nlm.nih.gov/38702430/). *Eur J Hum Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617925

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?

← Back to All Diseases

short-rib thoracic dysplasia 20 with polydactyly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features