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short-rib thoracic dysplasia 14 with polydactyly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short-rib thoracic dysplasia 14 with polydactyly

MONDO:0014688

Also known as:SRTD14

Overview

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

GeneticsAutosomal recessive · KIAA0586 (chr 14)

ResearchLimited published research (6 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: Molar tooth sign on MRI; and common findings: Micromelia, Occipital meningocele, Short ribs, and Cerebellar vermis hypoplasia and others. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Hypoplasia of the brainstem, Hydrocephalus, Enlarged brain ventricles (ventriculomegaly)

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.

KIAA0586 encodes KIAA0586 (1,533 aa). Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. Highest expression in Testis (16.6 TPM) and Cells EBV-transformed lymphocytes (8.7 TPM).

Short-rib thoracic dysplasia 14 with polydactyly is associated with mutations in the KIAA0586 gene on chromosome 14.

KIAA0586 is classified as a druggable target with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for KIAA0586 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 14 with polydactyly has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 7 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 14 with polydactyly.

6 publications have been identified in PubMed for short-rib thoracic dysplasia 14 with polydactyly. Research spans Case Report / Case Series (67%), Diagnostic / Biomarker (17%), and Epidemiology / Natural History (17%).

Recent Publications

Wang Z (2026). [PMID: 41503593](https://pubmed.ncbi.nlm.nih.gov/41503593/). *Clin Case Rep*. [Case Report / Case Series]
Xian S (2026). [PMID: 42256993](https://pubmed.ncbi.nlm.nih.gov/42256993/). *Clin Case Rep*. [Case Report / Case Series]
Pattani N (2025). [PMID: 40250984](https://pubmed.ncbi.nlm.nih.gov/40250984/). *J Med Genet*. [Epidemiology / Natural History]
Margiotti K (2024). [PMID: 39594267](https://pubmed.ncbi.nlm.nih.gov/39594267/). *Diagnostics (Basel)*. [Diagnostic / Biomarker]
Deconte D (2024). [PMID: 39063141](https://pubmed.ncbi.nlm.nih.gov/39063141/). *Int J Mol Sci*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:25 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616546

GARD

Genetic and Rare Diseases Info Center

GARD:18467

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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→Is there a patient registry I should consider joining?

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short-rib thoracic dysplasia 14 with polydactyly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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