Rare diseases · Sign or symptom
Long philtrum
HP:0000343
What it means
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Rare diseases that can present with this211
Very common80–99%
70- 14q11.2microdeletion syndrome
- 1p36deletion syndrome
- 2p15p16.1microdeletion syndrome
- 3q13microdeletion syndrome
- 48,XYYY syndrome
- 8q22.1microdeletion syndrome
- Achondrogenesis
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Acromicric dysplasia
- Adenylosuccinate lyase deficiency
- Autosomal dominant otospondylomegaepiphyseal dysplasia
- Autosomal recessive cutis laxa type 2, classic type
- Autosomal recessive faciodigitogenital syndrome
- Autosomal recessive omodysplasia
- Baraitser-Winter cerebrofrontofacial syndrome
- Blepharonasofacial malformation syndrome
- Brachymorphism-onychodysplasia-dysphalangism syndrome
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Cantú syndrome
- Carey-Fineman-Ziter syndrome
- Cornelia de Lange syndrome
- Cortical blindness-intellectual disability-polydactyly syndrome
- Craniolenticulosutural dysplasia
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Crisponi syndrome
- C syndrome
- Distal deletion 3p syndrome
- Distal duplication 15q syndrome
- DOORS syndrome
- Emery-Nelson syndrome
- Encephalopathy due to sulfite oxidase deficiency
- Epilepsy-telangiectasia syndrome
- Fetal valproate spectrum disorder
- Flat face-microstomia-ear anomaly syndrome
- Fryns syndrome
- GAPO syndrome
- Hajdu-Cheney syndrome
- Histidinuria-renal tubular defect syndrome
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Marshall syndrome
- Microlissencephaly-micromelia syndrome
- Mitochondrial myopathy and sideroblastic anemia
- Monosomy 9p syndrome
- Multiple pterygium-malignant hyperthermia syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Nicolaides-Baraitser syndrome
- Non-distal duplication 13q syndrome
- Opitz GBBB syndrome
- Overgrowth-macrocephaly-facial dysmorphism syndrome
- Pallister-Killian syndrome
- Peters plus syndrome
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- RIN2 syndrome
- Ring chromosome 10 syndrome
- Ring chromosome 1 syndrome
- Sanjad-Sakati syndrome
- Short stature-brachydactyly-obesity-global developmental delay syndrome
- SPECC1L-related hypertelorism syndrome
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- Stickler syndrome
- Stickler syndrome type 1
- Tetrasomy 18p syndrome
- Trichorhinophalangeal syndrome type 1
- Trichorhinophalangeal syndrome type 2
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- Weaver syndrome
- Williams syndrome
- Wrinkly skin syndrome
- X small rings 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: Elongated philtrum · Increased height of philtrum · Increased length of philtrum · Increased vertical dimension of philtrum · Vertical hyperplasia of philtrum
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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.