short-rib thoracic dysplasia 7 with or without polydactyly
Findings
No curated finding names short-rib thoracic dysplasia 7 with or without polydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
Definition from the Mondo Disease Ontology (MONDO:0013569), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bowing of the long bonesHPOHP:0006487
- Narrow chestHPOHP:0000774
- PolydactylyHPOHP:0010442
- Renal cystHPOHP:0000107
- Short ribsHPOHP:0000773
- SyndactylyHPOHP:0001159
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WDR35HGNC:29250
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: short-rib thoracic dysplasia 7 with or without polydactyly
- Also called
- short rib-polydactyly syndrome type 5short rib-polydactyly syndrome, type 5SRPS5SRTD7