Rare diseases · Sign or symptom
Cleft palate
Cleft roof of mouth
HP:0000175
What it means
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate.
Rare diseases that can present with this344
Very common80–99%
51- 22q11.2deletion syndrome
- Aase-Smith syndrome type 1
- Abruzzo-Erickson syndrome
- Acrocraniofacial dysostosis
- Acrofrontofacionasal dysostosis
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- Autosomal dominant otospondylomegaepiphyseal dysplasia
- Autosomal dominant popliteal pterygium syndrome
- Bamforth-Lazarus syndrome
- Bartsocas-Papas syndrome
- Campomelia, Cumming type
- Campomelic dysplasia
- Cerebrocostomandibular syndrome
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
- Cleft palate-large ears-small head syndrome
- Cleft palate-lateral synechia syndrome
- Cleft palate-stapes fixation-oligodontia syndrome
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome
- Crane-Heise syndrome
- Desmosterolosis
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
- Diabetic embryopathy
- Diprosopus
- Distal deletion 19p syndrome
- Duplication of the pituitary gland
- Dysmorphism-cleft palate-loose skin syndrome
- Dysraphism-cleft lip/palate-limb reduction defects syndrome
- Faciocardiorenal syndrome
- Femoral-facial syndrome
- Genitopalatocardiac syndrome
- Goldberg-Shprintzen megacolon syndrome
- Hamel cerebro-palato-cardiac syndrome
- Hartsfield syndrome
- Holzgreve syndrome
- Isolated Pierre Robin sequence
- Lethal omphalocele-cleft palate syndrome
- Mandibulofacial dysostosis-microcephaly syndrome
- Marden-Walker syndrome
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
- Oculodentodigital dysplasia
- Orofaciodigital syndrome type 2
- Otopalatodigital syndrome type 1
- Otopalatodigital syndrome type 2
- Pai syndrome
- Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome
- Schisis association
- Thomas syndrome
- Trisomy 13 syndrome
- Unilateral ocular duplication
- Verloove Vanhorick-Brubakk syndrome
Common30–79%
28- 22q11.2duplication syndrome
- 2q32q33deletion syndrome
- 3C syndrome
- Acrocardiofacial syndrome
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Alobar holoprosencephaly
- Aminopterin/methotrexate embryofetopathy
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Anophthalmia plus syndrome
- Atelosteogenesis type II
- Auriculocondylar syndrome
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- Autosomal recessive otospondylomegaepiphyseal dysplasia
- Aymé-Gripp syndrome
- Blepharonasofacial malformation syndrome
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- Branchiogenic deafness syndrome
- BRESEK syndrome
- Carey-Fineman-Ziter syndrome
- CHAND syndrome
- CHIME syndrome
- Cleft lip/palate
- Cleft palate-short stature-vertebral anomalies syndrome
- Congenital laryngomalacia
- Congenital unilateral hypoplasia of depressor anguli oris
- Contractures-developmental delay-Pierre Robin syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cleft hard and soft palate · Cleft of hard and soft palate · Cleft of palate · Cleft secondary palate · Palatoschisis · Uranostaphyloschisis
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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.