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short-rib thoracic dysplasia 7 with or without polydactyly (SRPS5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short-rib thoracic dysplasia 7 with or without polydactyly

MONDO:0013569

Also known as:SRPS5SRTD7short rib-polydactyly syndrome type 5

Overview

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.

GeneticsAutosomal recessive · WDR35 (chr 2)

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: Epicanthus, Micromelia, Hypoplastic scapulae, and Pulmonary hypoplasia and 33 more.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	3	Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst
Digestive system

Genetic Landscape

WDR35 function has not been fully characterized.

Short-rib thoracic dysplasia 7 with or without polydactyly is caused by mutations in the WDR35 gene on chromosome 2.

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 WDR35 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 7 with or without polydactyly has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 7 with or without polydactyly.

200 publications have been identified in PubMed for short-rib thoracic dysplasia 7 with or without polydactyly. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	71	36%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 12:04 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614091

Orphanet

European rare disease database

Orphanet:498497

GARD

Genetic and Rare Diseases Info Center

GARD:15756

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 7 with or without polydactyly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

short-rib thoracic dysplasia 7 with or without polydactyly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications