Rare diseases · Sign or symptom
Orofacial cleft
Cleft of the mouth
HP:0000202
What it means
The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Rare diseases that can present with this69
Very common80–99%
10- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Developmental malformations-deafness-dystonia syndrome
- Hardikar syndrome
- Kapur-Toriello syndrome
- MMEP syndrome
- Monosomy 9q22.3 syndrome
- Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
- Orofaciodigital syndrome type 4
- Tetraamelia-multiple malformations syndrome
- X-linked intellectual disability, Siderius type
Common30–79%
17- 3MC syndrome
- Autosomal recessive multiple pterygium syndrome
- Cleft lip/palate
- Craniofrontonasal dysplasia
- EEC syndrome
- Femoral-facial syndrome
- German syndrome
- Holoprosencephaly-postaxial polydactyly syndrome
- Holoprosencephaly-radial heart renal anomalies syndrome
- Intellectual disability, Wolff type
- Juberg-Hayward syndrome
- Kabuki syndrome
- Loeys-Dietz syndrome
- Microphthalmia, Lenz type
- Mycophenolate mofetil embryopathy
- Oculoauriculovertebral spectrum with radial defects
- SERKAL 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: Cleft lip, cleft palate · Cleft lip/palate · Oral cleft · Oral clefting
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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.