Rare diseases · Sign or symptom
Short philtrum
HP:0000322
What it means
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Rare diseases that can present with this126
Very common80–99%
27- 8q21.11microdeletion syndrome
- Acrocraniofacial dysostosis
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Cataract-intellectual disability-hypogonadism syndrome
- Char syndrome
- CHIME syndrome
- Cloverleaf skull-multiple congenital anomalies syndrome
- Cohen syndrome
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- Difference of sex development-intellectual disability syndrome
- Distal deletion 19p syndrome
- Frank-Ter Haar syndrome
- Fryns-Smeets-Thiry syndrome
- Keppen-Lubinsky syndrome
- Micro syndrome
- Microtriplication 11q24.1 syndrome
- Monosomy 18p syndrome
- Paternal 20q13.2q13.3 microdeletion syndrome
- Pitt-Hopkins syndrome
- Progressive non-infectious anterior vertebral fusion
- Ring chromosome 7 syndrome
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- Wiedemann-Rautenstrauch syndrome
- Wolf-Hirschhorn syndrome
- X-linked intellectual disability, Cabezas type
- X-linked intellectual disability, Cantagrel type
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
Common30–79%
52- 17q21.31microduplication syndrome
- 17q24.2microdeletion syndrome
- 19p13.3microduplication syndrome
- 20q11.2microdeletion syndrome
- 3q29microdeletion syndrome
- 4q21microdeletion syndrome
- 5q14.3microdeletion syndrome
- 7q11.23microduplication syndrome
- Aicardi syndrome
- Alazami syndrome
- Autism spectrum disorder due to AUTS2 deficiency
- Basel-Vanagaite-Smirin-Yosef syndrome
- Birk-Barel syndrome
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- Branchioskeletogenital syndrome
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Charlie M syndrome
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
- Deaf blind hypopigmentation syndrome, Yemenite type
- Deafness-craniofacial syndrome
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
- Distal deletion 15q syndrome
- Distal deletion 6p syndrome
- Distal duplication 17q syndrome
- Epidermolysis bullosa simplex with anodontia/hypodontia
- Filippi syndrome
- Focal facial dermal dysplasia type III
- Fried syndrome
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Lujan-Fryns syndrome
- Macrocephaly-spastic paraplegia-dysmorphism syndrome
- McDonough syndrome
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- Microform holoprosencephaly
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Non-syndromic bilambdoid and sagittal craniosynostosis
- Oculocerebrofacial syndrome, Kaufman type
- PDE4D haploinsufficiency syndrome
- Potocki-Shaffer syndrome
- Renpenning syndrome
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- Smith-Magenis syndrome
- Tetraploidy syndrome
- X-linked intellectual disability, Armfield type
- X-linked intellectual disability-craniofacioskeletal syndrome
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
- X-linked intellectual disability, Porteous type
- Yunis-Varon syndrome
- Zechi-Ceide 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 philtrum · Decreased length of philtrum · Decreased vertical dimension of philtrum · Vertical hypoplasia 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.