Trait
High shoulder blade
Clinical name: Sprengel anomaly
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Summary
- Also called
- Congenital, upward displacement of the scapula, High scapula, Sprengel deformity
- Body system
- Abnormality of the musculoskeletal system
Read the genes linked to High shoulder blade, and the rest of your genome, with one test.
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Get my Genome Test53 genes linked to High shoulder blade
Changes in these genes cause rare conditions in which High shoulder blade 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 |
|---|---|---|
| TMCO1transmembrane and coiled-coil domains 1 | Very often (80–99%) | In 2 conditions |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| EFNB1ephrin B1 | Often (30–79%) | In 2 conditions |
| EMDemerin | Often (30–79%) | In 1 condition |
| FHL1four and a half LIM domains 1 | Often (30–79%) | In 1 condition |
| GDF3growth differentiation factor 3 | Often (30–79%) | In 1 condition |
| GDF6growth differentiation factor 6 | Often (30–79%) | In 2 conditions |
| LMNAlamin A/C | Often (30–79%) | In 2 conditions |
| MEOX1mesenchyme homeobox 1 | Often (30–79%) | In 2 conditions |
| NPR2natriuretic peptide receptor 2 | Often (30–79%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Often (30–79%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| SEPTIN9septin 9 | Often (30–79%) | In 1 condition |
| SF3B4splicing factor 3b subunit 4 | Often (30–79%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Often (30–79%) | In 1 condition |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Often (30–79%) | In 1 condition |
| TBX2T-box transcription factor 2 | Often (30–79%) | In 1 condition |
| TMEM43transmembrane protein 43 | Often (30–79%) | In 1 condition |
| WBP11WW domain binding protein 11 | Often (30–79%) | In 1 condition |
| ADA2adenosine deaminase 2 | Sometimes (5–29%) | In 1 condition |
| CDH2cadherin 2 | Sometimes (5–29%) | In 1 condition |
| FLNAfilamin A | Sometimes (5–29%) | In 1 condition |
| GATA1GATA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| HEATR3HEAT repeat containing 3 | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sometimes (5–29%) | In 1 condition |
| PAX3paired box 3 | Sometimes (5–29%) | In 2 conditions |
| RPL11ribosomal protein L11 | Sometimes (5–29%) | In 2 conditions |
| RPL15ribosomal protein L15 | Sometimes (5–29%) | In 1 condition |
| RPL18ribosomal protein L18 | Sometimes (5–29%) | In 1 condition |
| RPL26ribosomal protein L26 | Sometimes (5–29%) | In 1 condition |
| RPL27ribosomal protein L27 | Sometimes (5–29%) | In 1 condition |
| RPL31ribosomal protein L31 | Sometimes (5–29%) | In 1 condition |
| RPL35ribosomal protein L35 | Sometimes (5–29%) | In 1 condition |
| RPL35Aribosomal protein L35a | Sometimes (5–29%) | In 1 condition |
| RPL5ribosomal protein L5 | Sometimes (5–29%) | In 1 condition |
| RPL8ribosomal protein L8 | Sometimes (5–29%) | In 1 condition |
| RPL9ribosomal protein L9 | Sometimes (5–29%) | In 1 condition |
| RPS10ribosomal protein S10 | Sometimes (5–29%) | In 1 condition |
| RPS15Aribosomal protein S15a | Sometimes (5–29%) | In 1 condition |
Show 13 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| RPS17ribosomal protein S17 | Sometimes (5–29%) | In 1 condition |
| RPS19ribosomal protein S19 | Sometimes (5–29%) | In 1 condition |
| RPS20ribosomal protein S20 | Sometimes (5–29%) | In 1 condition |
| RPS24ribosomal protein S24 | Sometimes (5–29%) | In 1 condition |
| RPS26ribosomal protein S26 | Sometimes (5–29%) | In 1 condition |
| RPS27ribosomal protein S27 | Sometimes (5–29%) | In 1 condition |
| RPS28ribosomal protein S28 | Sometimes (5–29%) | In 1 condition |
| RPS29ribosomal protein S29 | Sometimes (5–29%) | In 1 condition |
| RPS7ribosomal protein S7 | Sometimes (5–29%) | In 1 condition |
| TBX3T-box transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| TBX5T-box transcription factor 5 | Sometimes (5–29%) | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| PTCH1patched 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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