Seckel's syndrome

Seckel syndrome, also known as microcephalic primordial dwarfism type I, is a rare genetic disorder characterized by intrauterine growth retardation, postnatal growth deficiency, microcephaly, and a unique facial appearance. This condition is part of a group of diseases that result in significantly reduced growth, both in the womb and after birth. The syndrome was first described by Helmut Paul George Seckel in 1960.

Characteristics

Individuals with Seckel syndrome present a range of clinical features, including:

• Growth deficiency: Marked by significantly lower birth weight and length, continuing with poor growth postnatally.
• Microcephaly: A significantly smaller head size compared to individuals of the same age and sex, often accompanied by intellectual disability.
• Facial dysmorphisms: These may include a beak-like protrusion of the nose, large eyes, a narrow face, and a receding lower jaw.
• Skeletal abnormalities: Such as dislocation of the hip, unusual curvature of the spine (scoliosis), and abnormalities in the bones of the arms and legs.
• Developmental delays: Both physical and intellectual developments are typically delayed in individuals with Seckel syndrome.

Genetics

Seckel syndrome is inherited in an autosomal recessive manner, meaning 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 associated with Seckel syndrome, including ATR, RBBP8, and CEP152. Mutations in these genes disrupt the normal function of the cell cycle, particularly affecting DNA damage repair processes and cell division, which contributes to the characteristics of the syndrome.

Diagnosis

Diagnosis of Seckel syndrome is primarily based on clinical observation and the presence of characteristic features. Genetic testing can confirm a diagnosis by identifying mutations in the genes known to cause the syndrome. Prenatal diagnosis through ultrasound may detect growth retardation and microcephaly, suggesting the presence of Seckel syndrome or a similar condition.

Management

There is no cure for Seckel syndrome, and management focuses on treating symptoms and supporting the individual's development. This may include:

• Growth hormone therapy: To promote growth in some cases, although its effectiveness varies.
• Educational support: Tailored learning programs to address developmental delays and intellectual disability.
• Regular health monitoring: To manage and treat complications such as vision and hearing problems, heart defects, and skeletal abnormalities.

Prognosis

The life expectancy for individuals with Seckel syndrome varies depending on the severity of symptoms and the presence of associated health issues. With appropriate medical and developmental support, individuals with Seckel syndrome can lead fulfilling lives.

See also

• Primordial dwarfism
• Microcephaly
• Autosomal recessive inheritance

Seckel's syndrome Resources
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