Char syndrome

Char Syndrome

Char syndrome (pronounced: /ʃɑːr/), is a rare genetic disorder characterized by patent ductus arteriosus, facial dysmorphism, and hand anomalies. The syndrome was first described by Char, a French physician, hence the name.

Etymology

The term "Char syndrome" is derived from the name of the French physician who first described the condition. The word "syndrome" comes from the Greek "σύνδρομο" (sýndromo), meaning "concurrence of symptoms" or "running together".

Symptoms and Signs

Char syndrome is characterized by three primary symptoms: patent ductus arteriosus, facial dysmorphism, and hand anomalies.

• Patent Ductus Arteriosus (PDA) is a heart condition that occurs when the ductus arteriosus, a blood vessel in the heart, fails to close after birth. This can lead to difficulty breathing and poor growth.

• Facial Dysmorphism in Char syndrome typically includes a flat nasal bridge, wide-set eyes (hypertelorism), and down-turned corners of the mouth.

• Hand Anomalies often involve the fifth finger (the "pinky") being shorter than normal (clinodactyly) and the presence of only two knuckles instead of three (brachydactyly).

Causes

Char syndrome is caused by mutations in the TFAP2B gene. This gene provides instructions for making a protein that plays a crucial role in the development of the face, hands, and heart.

Diagnosis

Diagnosis of Char syndrome is based on the presence of the characteristic symptoms and can be confirmed by genetic testing for mutations in the TFAP2B gene.

Treatment

Treatment for Char syndrome is symptomatic and supportive. This may include surgery to close the patent ductus arteriosus and physical therapy for hand anomalies.

See Also

• Genetic Disorder
• Congenital Heart Defect
• Facial Dysmorphism

External links

• Medical encyclopedia article on Char syndrome
• Wikipedia's article - Char syndrome

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