Rare diseases · Sign or symptom
Thick lower lip vermilion
Increased volume of lower lip
HP:0000179
What it means
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately.
Rare diseases that can present with this49
Very common80–99%
18- 48,XYYY syndrome
- Cheilitis glandularis
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- Cutaneous mastocytosis-deafness-microtia syndrome
- Distal Xq28 microduplication syndrome
- Fountain syndrome
- Fryns-Smeets-Thiry syndrome
- Gabriele-de Vries syndrome
- Intellectual disability, Wolff type
- Lipoid proteinosis
- Marshall syndrome
- Mucopolysaccharidosis type 6
- Noonan syndrome
- Overgrowth-macrocephaly-facial dysmorphism syndrome
- Sialidosis type 1
- Somatomammotropinoma
- Williams syndrome
Common30–79%
18- 48,XXYY syndrome
- Acromicric dysplasia
- Costello syndrome
- Deafness-intellectual disability syndrome, Martin-Probst type
- DOORS syndrome
- Down syndrome
- Fabry disease
- MOMO syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Mucopolysaccharidosis type 1
- Non-progressive cerebellar ataxia with intellectual disability
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- X-linked alpha-thalassemia-intellectual disability syndrome
- X-linked intellectual disability, Cabezas type
- X-linked intellectual disability, Snyder type
Sometimes5–29%
11- 15q24microdeletion syndrome
- 21q22.11q22.12microdeletion syndrome
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Helsmoortel-Van der Aa syndrome
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- Intellectual disability-seizures-macrocephaly-obesity syndrome
- Kleefstra syndrome due to a point mutation
- Mosaic trisomy 1 syndrome
and 3 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: Full lower lip · Full lower lip vermilion · Increased height of lower lip vermilion · Increased volume of lower lip vermilion · Plump lower lip · Prominent lower lip · Prominent lower lip vermilion · Thick 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.