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Start free with EleplanMesomelia-synostoses syndrome
ORPHA:2496Malformation syndrome
Also called 8q13 microdeletion syndrome · Del(8)q(13) · Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type · Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type · Monosomy 8q13 · Verloes-David syndrome
What it is
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
24- Abnormal foot morphology
- Abnormal humerus morphology
- Abnormality of the hand
- Abnormality of the wrist
- Abnormality of tibia morphology
- Abnormal metacarpal morphology
- Aplasia/Hypoplasia of the uvula
- Brachydactyly
- Clinodactyly of the 5th finger
- Downslanted palpebral fissures
- High, narrow palate
- Joint stiffness
- Mesomelia
- Metatarsal synostosis
- Micrognathia
- Micromelia
- Ptosis
- Short foot
- Short stature
- Skeletal dysplasia
- Synostosis of carpal bones
- Synostosis of joints
- Telecanthus
- Ulnar deviation of finger
These 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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