cleft palate-short stature-vertebral anomalies syndrome
Findings
No curated finding names cleft palate-short stature-vertebral anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.
Definition from the Mondo Disease Ontology (MONDO:0016065), read 2026-09-29. CC BY 4.0.
Features
11 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 vertebral morphologyHPOHP:0003468
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPO
Where it sits
Other names
1 name
Resolves to: cleft palate-short stature-vertebral anomalies syndrome
- Also called
- Mathieu-De Broca-Bony syndrome