Rare diseases · Sign or symptom
Deep philtrum
HP:0002002
What it means
Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges.
Rare diseases that can present with this31
Very common80–99%
8Common30–79%
11- 14q11.2microdeletion syndrome
- 2q31.1microdeletion syndrome
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- CDKL5-deficiency disorder
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- Familial benign copper deficiency
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Noonan syndrome-like disorder with loose anagen hair
- Proximal 3p25.3 microdeletion syndrome
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- Weaver syndrome
Sometimes5–29%
11- 3q29microduplication syndrome
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Dihydropyrimidine dehydrogenase deficiency
- Holoprosencephaly
- Intellectual disability-alacrima-achalasia syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Leukocyte adhesion deficiency type II
- Oculocerebrorenal syndrome of Lowe
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: Depressed philtrum · Increased depth of philtrum · Philtrum, deep · Prominent philtrum · Pronounced 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.