Skip to content
Use your HSA or FSA funds

Trait

Upper limb undergrowth

Arm shortening because of underdevelopment of one or more bones of the upper extremity.

HPO HP:0009824

Summary

Also called
Short arms, Shortening of the arms, Hypoplasia involving bones of the upper limbs
Body system
Abnormality of limbsAbnormality of the musculoskeletal system

16 genes linked to Upper limb undergrowth

Changes in these genes cause rare conditions in which Upper limb undergrowth 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
CHUKcomponent of inhibitor of nuclear factor kappa B kinase complexAlwaysIn 1 condition
TBX5T-box transcription factor 5AlwaysIn 1 condition
BPTFbromodomain PHD finger transcription factorOften (30–79%)In 1 condition
COL2A1collagen type II alpha 1 chainOften (30–79%)In 2 conditions
FN1fibronectin 1Often (30–79%)In 1 condition
PIGTphosphatidylinositol glycan anchor biosynthesis class TOften (30–79%)In 1 condition
PSMD12proteasome 26S subunit, non-ATPase 12Often (30–79%)In 1 condition
SALL4spalt like transcription factor 4Often (30–79%)In 1 condition
SLC26A2solute carrier family 26 member 2Often (30–79%)In 2 conditions
DLK1delta like non-canonical Notch ligand 1Sometimes (5–29%)In 1 condition
LBRlamin B receptorSometimes (5–29%)In 1 condition
MEG3maternally expressed 3Sometimes (5–29%)In 1 condition
PDE4Dphosphodiesterase 4DSometimes (5–29%)In 1 condition
RTL1retrotransposon Gag like 1Sometimes (5–29%)In 1 condition
DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalyticNot recordedIn 1 condition
HYLS1HYLS1 centriolar and ciliogenesis associatedNot 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 bones of the upper limbsLimb undergrowth

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.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test