Rare diseases · Sign or symptom
Everted lower lip vermilion
Drooping lower lip
HP:0000232
What it means
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term.
Rare diseases that can present with this85
Very common80–99%
36- 14q11.2microdeletion syndrome
- 2p15p16.1microdeletion syndrome
- 3M syndrome
- 8p inverted duplication/deletion syndrome
- Aarskog-Scott syndrome
- Atkin-Flaitz syndrome
- Autosomal recessive faciodigitogenital syndrome
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Branchio-oculo-facial syndrome
- Cataract-intellectual disability-hypogonadism syndrome
- Char syndrome
- Coffin-Lowry syndrome
- COFS syndrome
- FOXG1 syndrome due to 14q12 microdeletion
- Fryns-Smeets-Thiry syndrome
- GAPO syndrome
- German syndrome
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Kleefstra syndrome
- Kleefstra syndrome due to 9q34 microdeletion
- Koolen-De Vries syndrome
- Microcephaly-deafness-intellectual disability syndrome
- Nicolaides-Baraitser syndrome
- Non-distal duplication 10q syndrome
- Pallister-Killian syndrome
- Pierpont syndrome
- Progeroid syndrome, Petty type
- Proximal Xq28 duplication syndrome
- Schwartz-Jampel syndrome
- Trisomy 12p syndrome
- Trisomy 8q syndrome
- Van den Ende-Gupta syndrome
- Williams syndrome
- X-linked hypohidrotic ectodermal dysplasia
- X-linked intellectual disability, Shashi type
- Xq12-q13.3 duplication syndrome
Common30–79%
32- 2q23.1microdeletion syndrome
- 3q29microdeletion syndrome
- 8q12microduplication syndrome
- Acrofrontofacionasal dysostosis
- Autosomal dominant prognathism
- Axenfeld-Rieger syndrome
- Basel-Vanagaite-Smirin-Yosef syndrome
- CDKL5-deficiency disorder
- Cleft palate-lateral synechia syndrome
- Cranioectodermal dysplasia
- Deafness-intellectual disability syndrome, Martin-Probst type
- Diencephalic syndrome
- Fetal hydantoin syndrome
- Fountain syndrome
- Gingival fibromatosis-facial dysmorphism syndrome
- Growth delay due to insulin-like growth factor I resistance
- Hurler syndrome
- Hypodontia-dysplasia of nails syndrome
- Macrocephaly-spastic paraplegia-dysmorphism syndrome
- Moebius syndrome
- Mowat-Wilson syndrome
- Mucopolysaccharidosis type 1
- Neu-Laxova syndrome
- Non-distal duplication 13q syndrome
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- Scheie syndrome
- Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
- SPECC1L-related hypertelorism syndrome
- Thumb deformity-alopecia-pigmentation anomaly syndrome
- WAGR syndrome
- X-linked alpha-thalassemia-intellectual disability syndrome
- Xp21deletion syndrome
Sometimes5–29%
12- 2q31.1microdeletion syndrome
- Amelo-onycho-hypohidrotic syndrome
- Bainbridge-Ropers syndrome
- Duane retraction syndrome
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Intellectual disability-brachydactyly-Pierre Robin syndrome
- Johnson neuroectodermal syndrome
- Megalocornea-intellectual disability syndrome
and 4 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Eclabium of lower lip · Everted lower lip · Everted prominent lower lip · Outward turned lower lip · Protruding lower lip
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.