Rare diseases · Sign or symptom
Downturned corners of mouth
Downturned corners of the mouth
HP:0002714
What it means
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms).
Rare diseases that can present with this106
Very common80–99%
29- 14q22q23microdeletion syndrome
- 8q21.11microdeletion syndrome
- Aniridia-renal agenesis-psychomotor retardation syndrome
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- Autosomal recessive Robinow syndrome
- Branchioskeletogenital syndrome
- Cloverleaf skull-multiple congenital anomalies syndrome
- Cornelia de Lange syndrome
- Difference of sex development-intellectual disability syndrome
- Distal duplication 15q syndrome
- Edinburgh malformation syndrome
- Fetal valproate spectrum disorder
- Flat face-microstomia-ear anomaly syndrome
- Focal facial dermal dysplasia type III
- Fryns-Smeets-Thiry syndrome
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- Pallister-Killian syndrome
- Radio-renal syndrome
- Recombinant 8 syndrome
- Ring chromosome 1 syndrome
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
- Spinocerebellar ataxia-dysmorphism syndrome
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- Thakker-Donnai syndrome
- Trisomy 12p syndrome
- Trisomy 9p syndrome
- Wiedemann-Rautenstrauch syndrome
- Wolf-Hirschhorn syndrome
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
Common30–79%
42- 2q31.1microdeletion syndrome
- 2q37microdeletion syndrome
- 3MC syndrome
- 9q21.13microdeletion syndrome
- Autosomal dominant Robinow syndrome
- Camptodactyly syndrome, Guadalajara type 1
- Distal deletion 3p syndrome
- Distal deletion 6p syndrome
- DOORS syndrome
- Down syndrome
- Focal facial dermal dysplasia type I
- FOXP1 Syndrome
- Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- Hajdu-Cheney syndrome
- Hall-Riggs syndrome
- Hyperphosphatasia-intellectual disability syndrome
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Isolated permanent neonatal diabetes mellitus
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Kleefstra syndrome due to 9q34 microdeletion
- Lathosterolosis
- Maternal uniparental disomy of chromosome 1 syndrome
- MEHMO syndrome
- Microcephalic primordial dwarfism, Toriello type
- Monosomy 18p syndrome
- Monosomy 18q syndrome
- Multiple pterygium-malignant hyperthermia syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Omphalocele syndrome, Shprintzen-Goldberg type
- Potocki-Shaffer syndrome
- Prader-Willi syndrome due to translocation
- Ring chromosome 16 syndrome
- Ring chromosome 3 syndrome
- Roifman syndrome
- Silver-Russell syndrome
- Silver-Russell syndrome due to 7p11.2p13 microduplication
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- X-linked intellectual disability, Nascimento type
- Zechi-Ceide syndrome
Sometimes5–29%
9- 12q14microdeletion syndrome
- 21q22.11q22.12microdeletion syndrome
- 21q deletion syndrome
- 4q21microdeletion syndrome
- Alternating hemiplegia of childhood
- Arthrogryposis multiplex congenita-whistling face syndrome
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- DEND syndrome
and 1 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: Downturned mouth · Downturned oral commisures
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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.