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 22 without polydactyly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short-rib thoracic dysplasia 22 without polydactyly

MONDO:0979242

Overview

GeneticsAutosomal recessive

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: Pulmonary hypoplasia, Thoracic hypoplasia, Pyloric stenosis, and Respiratory distress and others; and common findings: Bell-shaped thorax, 11 pairs of ribs, Lumbar scoliosis, and Narrow chest and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	5	Pulmonary hypoplasia, Respiratory distress, Respiratory tract infection

Prognosis

Phenotype severity distribution: 9 always present features, 6 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 22 without polydactyly.

2 publications have been identified in PubMed for short-rib thoracic dysplasia 22 without polydactyly. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Xiong S (2025). [PMID: 39881416](https://pubmed.ncbi.nlm.nih.gov/39881416/). *Hereditas*. [Basic Science / Preclinical]
Margiotti K (2024). [PMID: 39594267](https://pubmed.ncbi.nlm.nih.gov/39594267/). *Diagnostics (Basel)*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621260

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 22 without polydactyly

Overview

Clinical Presentation

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