Seckel syndrome

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Seckel syndrome

Seckel syndrome (/ˈsɛkəl/; etymology: named after Helmut Paul George Seckel, a German-American medical researcher) is a rare genetic disorder characterized by growth delays before and after birth (intrauterine growth retardation and postnatal growth retardation), microcephaly (small head size), a distinctive facial appearance, and intellectual disability.

Characteristics

Individuals with Seckel syndrome often have a small, narrow face with a beak-like nose, large eyes, and a receding jawline (micrognathia). Other physical characteristics may include dental abnormalities, dislocated hips, and bone abnormalities in the hands and feet.

Causes

Seckel syndrome is caused by mutations in several different genes, including ATR, RBBP8, CENPJ, CEP152, and others. These genes are involved in the maintenance and repair of DNA, and mutations can lead to problems with cell division and growth.

Diagnosis

Diagnosis of Seckel syndrome is based on the distinctive physical characteristics and confirmed by genetic testing. Prenatal diagnosis is possible if there is a known mutation in the family.

Treatment

There is no cure for Seckel syndrome, and treatment is supportive, focusing on managing the symptoms and improving the quality of life. This may include physical therapy, special education, and other supportive services.

Prognosis

The prognosis for individuals with Seckel syndrome varies. Some individuals may have a normal lifespan, while others may have life-threatening complications such as heart defects or respiratory problems.

See also

References

External links

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