Rare diseases · Sign or symptom
Thin upper lip vermilion
Thin upper lip
HP:0000219
What it means
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper 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 or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately.
Rare diseases that can present with this106
Very common80–99%
20- Adenylosuccinate lyase deficiency
- AICA-ribosiduria
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Autosomal dominant popliteal pterygium syndrome
- Autosomal recessive primary microcephaly
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Overgrowth-macrocephaly-facial dysmorphism syndrome
- Pallister-Killian syndrome
- Peters plus syndrome
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Proximal 16p11.2 microduplication syndrome
- Sialuria
- Trichorhinophalangeal syndrome type 2
- Wiedemann-Rautenstrauch syndrome
- Wilson-Turner syndrome
- X small rings syndrome
Common30–79%
44- 13q12.3microdeletion syndrome
- 14q24.1q24.3microdeletion syndrome
- 17q24.2microdeletion syndrome
- 20p13microdeletion syndrome
- 2q23.1microduplication syndrome
- 7q11.23microduplication syndrome
- 8q24.3microdeletion syndrome
- Aymé-Gripp syndrome
- Cleft palate-short stature-vertebral anomalies syndrome
- Coffin-Siris syndrome
- COG1-CDG
- CTCF-related neurodevelopmental disorder
- Distal 22q11.2 microdeletion syndrome
- Distal deletion 10q syndrome
- Distal deletion 15q syndrome
- Distal duplication 17q syndrome
- DOORS syndrome
- Dysplastic cortical hyperostosis, Al-Gazali type
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Femoral-facial syndrome
- Fetal alcohol syndrome
- Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- Geleophysic dysplasia
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Intellectual disability-facial dysmorphism-hand anomalies syndrome
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- KBG syndrome
- Macrocephaly-spastic paraplegia-dysmorphism syndrome
- Omphalocele syndrome, Shprintzen-Goldberg type
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- PMM2-CDG
- Prader-Willi syndrome due to translocation
- Roifman syndrome
- SATB2-associated syndrome due to a pathogenic variant
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
- Silver-Russell syndrome due to 7p11.2p13 microduplication
- Syndactyly-telecanthus-anogenital and renal malformations syndrome
- Wiedemann-Steiner syndrome
- X-linked intellectual disability-craniofacioskeletal syndrome
- X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
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: Decreased height of upper lip vermilion · Decreased volume of upper lip · Decreased volume of upper lip vermilion · Thin red part of the upper lip · Thin upper lips · Thin vermilion border of upper 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.