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short-rib thoracic dysplasia 8 with or without polydactyly (SRPS6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short-rib thoracic dysplasia 8 with or without polydactyly

MONDO:0014214

Also known as:SRPS6SRTD8short rib-polydactyly syndrome type VI

Overview

An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.

GeneticsAutosomal recessive · DYNC2I1 (chr 7)

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: Short long bone, Polyhydramnios, Femoral bowing, and Pulmonary hypoplasia and 16 more.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Short long bone, Femoral bowing
Growth and 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.

DYNC2I1 encodes dynein 2 intermediate chain 1 (1,066 aa). Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system. Highest expression in Testis (74.9 TPM) and Thyroid (32.3 TPM).

Short-rib thoracic dysplasia 8 with or without polydactyly is caused by mutations in the DYNC2I1 gene on chromosome 7.

DYNC2I1 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 DYNC2I1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 8 with or without polydactyly has been reported in the published literature.

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 8 with or without polydactyly.

226 publications have been identified in PubMed for short-rib thoracic dysplasia 8 with or without polydactyly. Research spans Case Report / Case Series (39%), Epidemiology / Natural History (19%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Patient case studies	88	39%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615503

GARD

Genetic and Rare Diseases Info Center

GARD:15975

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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Kisho

short-rib thoracic dysplasia 8 with or without polydactyly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

short-rib thoracic dysplasia 8 with or without polydactyly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications