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Trait
Small chest
Clinical name: Thoracic hypoplasia
Summary
- Also called
- Small thorax
- Body system
- Abnormality of the musculoskeletal system
Small chestHP:0005257
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Read the genes linked to Small chest, and the rest of your genome, with one test.
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Get my Genome Test47 genes linked to Small chest
Changes in these genes cause rare conditions in which Small chest is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| COL11A2collagen type XI alpha 2 chain | Always | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Always | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Always | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Always | In 1 condition |
| FGF4fibroblast growth factor 4 | Always | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Always | In 3 conditions |
| FLNAfilamin A | Always | In 1 condition |
| FLNBfilamin B | Always | In 3 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| IFT43intraflagellar transport 43 | Always | In 1 condition |
| KIAA0753KIAA0753 | Always | In 1 condition |
| LBRlamin B receptor | Always | In 2 conditions |
| MTORmechanistic target of rapamycin kinase | Always | In 2 conditions |
| SERPINH1serpin family H member 1 | Always | In 1 condition |
| SLC35D1solute carrier family 35 member D1 | Always | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Very often (80–99%) | In 3 conditions |
| FAM20CFAM20C golgi associated secretory pathway kinase | Very often (80–99%) | In 1 condition |
| MEG3maternally expressed 3 | Very often (80–99%) | In 3 conditions |
| RTL1retrotransposon Gag like 1 | Very often (80–99%) | In 3 conditions |
| DDRGK1DDRGK domain containing 1 | Often (30–79%) | In 1 condition |
| DSTdystonin | Often (30–79%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Often (30–79%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 2 conditions |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| MATN3matrilin 3 | Sometimes (5–29%) | In 2 conditions |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sometimes (5–29%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| BMPERBMP binding endothelial regulator | Not recorded | In 1 condition |
| CCN2cellular communication network factor 2 | Not recorded | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Not recorded | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Not recorded | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Not recorded | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Not recorded | In 1 condition |
| GBA1glucosylceramidase beta 1 | Not recorded | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Not recorded | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Not recorded | In 1 condition |
| IFT172intraflagellar transport 172 | Not recorded | In 1 condition |
Show 7 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| IFT81intraflagellar transport 81 | Not recorded | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Not recorded | In 1 condition |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Not recorded | In 1 condition |
| SLC10A7solute carrier family 10 member 7 | Not recorded | In 1 condition |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Not recorded | In 1 condition |
| SOX9SRY-box transcription factor 9 | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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