asphyxiating thoracic dystrophy 4
Findings
No curated finding names asphyxiating thoracic dystrophy 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
Definition from the Mondo Disease Ontology (MONDO:0013441), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
- Narrow chestHPOHP:0000774
- 2 of 2 reported patients
- Short long boneHPOHP:0003026
- 2 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 2 of 2 reported patients
- Hepatic cystsHPOHP:0001407
- 1 of 2 reported patients
- PolydactylyHPOHP:0010442
- 1 of 2 reported patients · Congenital onset
- ScoliosisHPOHP:0002650
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.
- TTC21BHGNC:25660
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: asphyxiating thoracic dystrophy 4
- Also called
- asphyxiating thoracic dystrophy type 4ATD4short-rib thoracic dysplasia 4 with or without polydactylySRTD4