Seckel syndrome

Bird Headed Dwarf 1

Seckel syndrome is a rare autosomal recessive genetic disorder characterized by growth retardation, microcephaly, and distinctive facial features. It is also known as bird-headed dwarfism due to the characteristic facial appearance of affected individuals.

Clinical Features

Individuals with Seckel syndrome typically present with:

• Severe pre- and post-natal growth retardation
• Microcephaly (small head size)
• Intellectual disability
• Distinctive facial features, including a beak-like nose, large eyes, and a receding jaw (micrognathia)
• Skeletal abnormalities such as clinodactyly (curved fingers) and hip dysplasia
• Hematological abnormalities, including pancytopenia (reduction in the number of red and white blood cells, as well as platelets)

Genetics

Seckel syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Several genes have been implicated in Seckel syndrome, including ATR, RBBP8, and CENPJ.

Diagnosis

The diagnosis of Seckel syndrome is based on clinical features and can be confirmed through genetic testing. Prenatal diagnosis is possible if there is a known family history of the disorder.

Management

There is no cure for Seckel syndrome, and treatment is primarily supportive. Management may include:

• Regular monitoring of growth and development
• Special education programs to address intellectual disability
• Surgical interventions for skeletal abnormalities
• Regular blood tests to monitor for hematological issues

Prognosis

The prognosis for individuals with Seckel syndrome varies. While some individuals may have a relatively normal lifespan, others may experience significant health challenges that can impact their quality of life.

Related Pages

• Microcephaly
• Autosomal recessive disorder
• Genetic disorder
• Intellectual disability
• Growth retardation

See Also

• List of genetic disorders
• Rare diseases

External Links

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