orofacial cleft
Findings
No curated finding names orofacial cleft yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder of facial skeleton that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.
Definition from the Mondo Disease Ontology (MONDO:0000358), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- Orofacial cleftMondoHP:0000202
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARHGAP29HGNC:30207
- Strong · PanelApp Australia · Autosomal dominant · 2025
- AMOTL1HGNC:17811
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- ESRP2HGNC:26152
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- HYAL2HGNC:5321
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- ZFHX4HGNC:30939
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- Narrower terms (16)
- ARHGAP29-related non-syndromic orofacial cleft
- cleft lip
- cleft lip and alveolus
- cleft lip/palate
- cleft lip/palate-ectodermal dysplasia syndrome
- cleft palate
- familial median cleft of the upper and lower lips
- GRHL3-related orofacial clefting
- orofacial cleft 1
- orofacial cleft 12
- orofacial cleft 13
- orofacial cleft 2
- orofacial cleft 4
- orofacial cleft 7
- orofacial cleft 8
- orofacial cleft 9