Tommy syndrome, more accurately known as Thomas syndrome, is a rare genetic condition characterized by a specific combination of birth defects. According to available information, it is characterized by:
- Renal (kidney) anomalies
- Cardiac (heart) malformations
- Cleft lip or palate
Key Features of Thomas Syndrome
| Feature | Description |
|---|---|
| Renal Anomalies | Problems with the development or function of the kidneys. |
| Cardiac Malformations | Defects in the structure of the heart that are present at birth. |
| Cleft Lip/Palate | A split in the upper lip and/or the roof of the mouth. |
Genetics and Inheritance
Thomas syndrome is believed to be inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for their child to be affected. The reference states that the condition has been described in a limited number of patients (six).
