short-rib thoracic dysplasia 6 with or without polydactyly
Findings
No curated finding names short-rib thoracic dysplasia 6 with or without polydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.
Definition from the Mondo Disease Ontology (MONDO:0009894), read 2026-09-29. CC BY 4.0.
Features
1 feature
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.
- Lateral clavicle hookHPOHP:0000895
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.
- NEK1HGNC:7744
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: short-rib thoracic dysplasia 6 with or without polydactyly
- Also called
- Majewski syndromepolydactyly with neonatal chondrodystrophy type IIshort rib-polydactyly syndrome type IISRPS2ASRTD6