CBL syndrome, also known as Casitas B-lineage lymphoma syndrome, is a rare genetic disorder stemming from mutations in the CBL gene.
Understanding CBL Syndrome
Key Characteristics
- Genetic Origin: Caused by heterozygous germline mutations in the CBL gene.
- Rarity and Heterogeneity: It is a rare and diverse genetic condition.
Common Features
The syndrome is characterized by a range of features:
- Musculoskeletal anomalies
- Dysmorphic features
- Congenital heart defects
- Increased risk of developing juvenile myelomonocytic leukemia (JMML)
Breakdown of Symptoms
| Symptom Category | Description |
|---|---|
| Musculoskeletal | Anomalies affecting bones and muscles. |
| Dysmorphic Features | Unusual facial or physical features that differ from the norm. |
| Congenital Heart Defects | Heart abnormalities present at birth. |
| Leukemia Risk | Higher chance of developing juvenile myelomonocytic leukemia (JMML), a type of blood cancer in young children. |
