Trait

Drooping upper lip

Clinical name: Everted upper lip vermilion

Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.

HPO HP:0010803

Also called: Outward turned upper lip, Protruding upper lip, Eclabium of upper lip, Everted prominent upper lip, Everted upper lip
Body system: Abnormality of head or neck

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26 genes linked to Drooping upper lip

Changes in these genes cause rare conditions in which Drooping upper lip 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
DIS3L2DIS3 like 3'-5' exoribonuclease 2	Always	In 1 condition
DNMT3ADNA methyltransferase 3 alpha	Always	In 1 condition
GON4Lgon-4 like	Always	In 1 condition
KCNK4potassium two pore domain channel subfamily K member 4	Always	In 1 condition
MAP1Bmicrotubule associated protein 1B	Always	In 1 condition
TCF3transcription factor 3	Always	In 1 condition
EDAectodysplasin A	Very often (80–99%)	In 2 conditions
EDA2Rectodysplasin A2 receptor	Very often (80–99%)	In 1 condition
WDR26WD repeat domain 26	Very often (80–99%)	In 1 condition
CREBBPCREB binding lysine acetyltransferase	Often (30–79%)	In 1 condition
H4C9H4 clustered histone 9	Often (30–79%)	In 1 condition
POGZpogo transposable element derived with ZNF domain	Often (30–79%)	In 1 condition
RAI1retinoic acid induced 1	Often (30–79%)	In 1 condition
SETD1ASET domain containing 1A, histone lysine methyltransferase	Often (30–79%)	In 1 condition
SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	Often (30–79%)	In 1 condition
AP4B1adaptor related protein complex 4 subunit beta 1	Sometimes (5–29%)	In 1 condition
AP4E1adaptor related protein complex 4 subunit epsilon 1	Sometimes (5–29%)	In 1 condition
AP4M1adaptor related protein complex 4 subunit mu 1	Sometimes (5–29%)	In 1 condition
AP4S1adaptor related protein complex 4 subunit sigma 1	Sometimes (5–29%)	In 1 condition
KCNH1potassium voltage-gated channel subfamily H member 1	Sometimes (5–29%)	In 1 condition
KIF7kinesin family member 7	Sometimes (5–29%)	In 1 condition
NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit	Sometimes (5–29%)	In 2 conditions
EPG5ectopic P-granules 5 autophagy tethering factor	Rarely (1–4%)	In 1 condition
EDARectodysplasin A receptor	Not recorded	In 1 condition
EDARADDEDAR associated via death domain	Not recorded	In 1 condition
GBA1glucosylceramidase beta 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

Abnormality of the red part of the upper lip Outward turned lips

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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