### Char Syndrome: A Rare Genetic Condition Char syndrome is a rare genetic condition that affects the development of a baby’s face, heart, and hands. It has been identified in only a few families worldwide. Here’s an overview of its symptoms, causes, diagnosis, and treatment. #### Symptoms - **Facial Features**: Distinctive facial features. - **Hands**: Shortened or missing pinky fingers; other hand and foot issues are less common. - **Heart**: Patent ductus arteriosus (PDA), a heart defect where a hole between two major blood vessels remains open after birth. #### Causes Char syndrome is caused by mutations in the TFAP2B gene, which is crucial for the normal development of the face, limbs, and heart. The condition can be inherited from an affected parent or result from a new mutation. #### Diagnosis If Char syndrome is suspected, a geneticist or genetic counselor may conduct genetic tests, often involving a blood test or tissue sample, to confirm the diagnosis. #### Treatment - **Medications**: NSAIDs may help close a PDA in premature babies. - **Surgery**: A surgeon can repair the PDA hole with stitches or clips. - **Catheter Procedure**: A catheter is used to place a plug or coil near the PDA hole. - **Watchful Waiting**: In some cases, the PDA hole may be small enough to not cause health problems, and doctors may choose to monitor it closely. Children with Char syndrome do not need special care for facial or hand symptoms but may require support to cope with potential bullying. Regular medical evaluations are recommended to monitor their condition.