familial median cleft of the upper and lower lips
Findings
No curated finding names familial median cleft of the upper and lower lips yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.
Definition from the Mondo Disease Ontology (MONDO:0014388), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 features
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, annotations 2026-09-02.
- Abnormal mandible morphologyHPOHP:0000277
- Very frequent (80% to 99% of cases)
- Abnormal maxilla morphologyHPOHP:0000326
- Very frequent (80% to 99% of cases)
- Abnormal midface morphologyHPOHP:0000309
- Very frequent (80% to 99% of cases)
- Abnormality of orbicularis oris muscleHPOHP:3000010
- Very frequent (80% to 99% of cases)
- Cleft lower lipHPOHP:0010281
- Very frequent (80% to 99% of cases)