Trait
Multiple fractures present at birth
Clinical name: Multiple prenatal fractures
The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
Summary
- Also called
- Multiple fractures, present at birth, Numerous multiple fractures present at birth, Numerous multiple fractures that are present at birth, Congenital bone fractures
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test19 genes linked to Multiple fractures present at birth
Changes in these genes cause rare conditions in which Multiple fractures present at birth 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 |
|---|---|---|
| ASCC1activating signal cointegrator 1 complex subunit 1 | Always | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Always | In 2 conditions |
| COL1A2collagen type I alpha 2 chain | Always | In 2 conditions |
| CRTAPcartilage associated protein | Always | In 1 condition |
| EMILIN1elastin microfibril interfacer 1 | Always | In 1 condition |
| P3H1prolyl 3-hydroxylase 1 | Always | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Very often (80–99%) | In 1 condition |
| PPIBpeptidylprolyl isomerase B | Very often (80–99%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 2 conditions |
| CCDC134coiled-coil domain containing 134 | Often (30–79%) | In 1 condition |
| KLHL40kelch like family member 40 | Often (30–79%) | In 1 condition |
| KLHL41kelch like family member 41 | Often (30–79%) | In 2 conditions |
| LBRlamin B receptor | Often (30–79%) | In 1 condition |
| LMOD3leiomodin 3 | Often (30–79%) | In 1 condition |
| MESDmesoderm development LRP chaperone | Often (30–79%) | In 1 condition |
| NEBnebulin | Often (30–79%) | In 2 conditions |
| TPM3tropomyosin 3 | Often (30–79%) | In 1 condition |
| TRIP4thyroid hormone receptor interactor 4 | Often (30–79%) | 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.
Broader traits
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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