Zechi-Ceide syndrome

Zechi-Ceide Syndrome

Zechi-Ceide Syndrome (pronounced: Zeh-kee Say-dee Syndrome) is a rare genetic disorder characterized by specific facial features, abnormalities in the fingers and toes, and intellectual disability.

Etymology

The syndrome is named after the Brazilian geneticists, Dr. Maria Rita Santos Zechi-Ceide and Dr. Roseli Maria Zechi-Ceide, who first described the condition in 1980.

Symptoms

The most common symptoms of Zechi-Ceide Syndrome include:

Craniofacial abnormalities: These include a prominent forehead, wide-set eyes, a small nose with upturned nostrils, and a small mouth with a thin upper lip.
Digital abnormalities: Individuals with this syndrome often have short fingers and toes, and may have extra digits (polydactyly).
Intellectual disability: Most individuals with Zechi-Ceide Syndrome have some degree of intellectual disability, ranging from mild to severe.

Causes

Zechi-Ceide Syndrome is caused by mutations in the TBX2 gene. This gene provides instructions for making a protein that plays a crucial role in the development of various parts of the body, including the face, limbs, and brain.

Diagnosis

Diagnosis of Zechi-Ceide Syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the TBX2 gene.

Treatment

There is currently no cure for Zechi-Ceide Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and surgeries to correct physical abnormalities.

Related Terms

External links

Medical encyclopedia article on Zechi-Ceide syndrome
Wikipedia's article - Zechi-Ceide syndrome

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