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An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
Features include always present findings: Short long bone, Stage 5 chronic kidney disease, Brachydactyly, and Narrow chest; and common findings: Sideways curvature of the spine (scoliosis), Short stature, Hepatic cysts, and Polydactyly.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 2 | Short long bone, Sideways curvature of the spine (scoliosis) |
TTC21B function has not been fully characterized.
Asphyxiating thoracic dystrophy 4 is associated with mutations in the TTC21B gene on chromosome 2.
Genetic testing for TTC21B is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for asphyxiating thoracic dystrophy 4 has been reported in the published literature.
Phenotype severity distribution: 4 always present features, 4 common features.
No clinical trials have been registered for asphyxiating thoracic dystrophy 4.
118 publications have been identified in PubMed for asphyxiating thoracic dystrophy 4. Research spans Case Report / Case Series (42%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (16%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 49 | 42% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:17 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Kidneys and urinary system |
1 |
Stage 5 chronic kidney disease |
Growth and development | 1 | Short stature |
Digestive system | 1 | Hepatic cysts |
Age of onset: at birth.
Laboratory research
26 |
22% |
Disease patterns and progression | 19 | 16% |
Research summaries | 13 | 11% |
Clinical study results | 5 | 4% |
Other research | 3 | 3% |
Testing and diagnosis research | 3 | 3% |
Romo-Aguas JC (2026). [PMID: 42022048](https://pubmed.ncbi.nlm.nih.gov/42022048/). *Ophthalmol Sci*. [Epidemiology / Natural History]
Payne E (2026). [PMID: 41984002](https://pubmed.ncbi.nlm.nih.gov/41984002/). *J Hand Surg Am*. [Epidemiology / Natural History]
Chamarthi VS (2026). [PMID: 34424641](https://pubmed.ncbi.nlm.nih.gov/34424641/). *Unknown Journal*. [Case Report / Case Series]
Sriswadpong P (2026). [PMID: 41164929](https://pubmed.ncbi.nlm.nih.gov/41164929/). *J Hand Surg Eur Vol*. [Case Report / Case Series]
Yu W (2026). [PMID: 42027034](https://pubmed.ncbi.nlm.nih.gov/42027034/). *J Hand Surg Eur Vol*. [Case Report / Case Series]
Mokhtari A (2026). [PMID: 40842263](https://pubmed.ncbi.nlm.nih.gov/40842263/). *Clin Genet*. [Basic Science / Preclinical]
Minotti C (2026). [PMID: 40583039](https://pubmed.ncbi.nlm.nih.gov/40583039/). *Clin Genet*. [Case Report / Case Series]
Wang Z (2026). [PMID: 41503593](https://pubmed.ncbi.nlm.nih.gov/41503593/). *Clin Case Rep*. [Case Report / Case Series]
Elsherbini A (2026). [PMID: 41689580](https://pubmed.ncbi.nlm.nih.gov/41689580/). *J Hand Surg Am*. [Review / Meta-Analysis]
Young B (2026). [PMID: 42077116](https://pubmed.ncbi.nlm.nih.gov/42077116/). *Hand (N Y)*. [Epidemiology / Natural History]
AI-curated news mentioning asphyxiating thoracic dystrophy 4
Updated Jul 23, 2026
A recent study published in PubMed examines the outcomes of spinal deformity treatment in patients with asphyxiating thoracic dystrophy. The findings contribute to understanding treatment efficacy for this rare condition.