Ruvalcaba syndrome
Findings
No curated finding names Ruvalcaba syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0008395), read 2026-09-29. CC BY 4.0.
Features
36 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.
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Cone-shaped epiphysisHPOHP:0010579
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- Dental crowdingHPOHP:0000678
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Show the remaining 24
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Short metacarpalHPOHP:0010049
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Small handHPOHP:0200055
- Very frequent (80% to 99% of cases)
- Synostosis of carpal bonesHPOHP:0005048
- Very frequent (80% to 99% of cases)
- Thin vermilion borderHPOHP:0000233
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of