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Trait

Small shoulder blade

Clinical name: Hypoplastic scapulae

Underdeveloped scapula.

HPO HP:0000882

Summary

Also called
Hypoplastic scapula, Scapular hypoplasia, Short scapulae, Small scapula, Small scapulae
Body system
Abnormality of the musculoskeletal system

29 genes linked to Small shoulder blade

Changes in these genes cause rare conditions in which Small 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.

GeneHow often it is seenConditions
ACTBactin betaAlwaysIn 2 conditions
FIG4FIG4 phosphoinositide 5-phosphataseAlwaysIn 1 condition
TBX15T-box transcription factor 15AlwaysIn 2 conditions
TBX5T-box transcription factor 5AlwaysIn 1 condition
INPPL1inositol polyphosphate phosphatase like 1Very often (80–99%)In 1 condition
SLC35D1solute carrier family 35 member D1Very often (80–99%)In 2 conditions
COL11A1collagen type XI alpha 1 chainOften (30–79%)In 3 conditions
COL11A2collagen type XI alpha 2 chainOften (30–79%)In 1 condition
COL2A1collagen type II alpha 1 chainOften (30–79%)In 1 condition
SOX9SRY-box transcription factor 9Often (30–79%)In 1 condition
DLK1delta like non-canonical Notch ligand 1Sometimes (5–29%)In 1 condition
GSCgoosecoid homeoboxSometimes (5–29%)In 1 condition
MEG3maternally expressed 3Sometimes (5–29%)In 1 condition
NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHLSometimes (5–29%)In 1 condition
PCNTpericentrinSometimes (5–29%)In 1 condition
PORcytochrome p450 oxidoreductaseSometimes (5–29%)In 1 condition
PSMB8proteasome 20S subunit beta 8Sometimes (5–29%)In 1 condition
RIPK4receptor interacting serine/threonine kinase 4Sometimes (5–29%)In 1 condition
RSPO2R-spondin 2Sometimes (5–29%)In 1 condition
RTL1retrotransposon Gag like 1Sometimes (5–29%)In 1 condition
RUNX2RUNX family transcription factor 2Sometimes (5–29%)In 2 conditions
SCARF2scavenger receptor class F member 2Sometimes (5–29%)In 1 condition
DYMdymeclinNot recordedIn 2 conditions
FGFR1fibroblast growth factor receptor 1Not recordedIn 1 condition
FLNAfilamin ANot recordedIn 1 condition
GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and betaNot recordedIn 1 condition
TBX3T-box transcription factor 3Not recordedIn 1 condition
TRIP11thyroid hormone receptor interactor 11Not recordedIn 1 condition
WDR35WD repeat domain 35Not recordedIn 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.

Narrower traits

Broader traits

Absent/small shoulder blade

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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