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Start free with EleplanRuvalcaba syndrome
ORPHA:3121Malformation syndrome
What it is
Ruvalcaba syndrome is 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.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Unknown
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
18- Brachydactyly
- Cone-shaped epiphysis
- Convex nasal ridge
- Dental crowding
- Downslanted palpebral fissures
- Global developmental delay
- Intellectual disability
- Kyphosis
- Microcephaly
- Micromelia
- Narrow mouth
- Proximal placement of thumb
- Ptosis
- Short metacarpal
- Short nose
- Small hand
- Synostosis of carpal bones
- Thin vermilion border
Common30–79%
8These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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