Seckel syndrome

The Seckel syndrome (also known as Harper's Syndrome and Virchow- Seckel syndrome) is a very rare genetic disease with the clinical picture of a very highly developed form of dwarfism. The disease was named after their discoverers Helmut Paul George Seckel and Rita G. Harper, whose findings were published for the first time in 1967. The exact number of sufferers is unknown, estimates amount to two dozen world.

Cause

Because of their rarity, the disease is expressed only very little studied, whereby the causes which lead to the genetic defect, are not yet fully understood. Genetic defects have been identified on chromosomes 3, 14 and 18, which are responsible for the occurrence of the disease. The defect is inherited as an autosomal recessive trait, which means that both parents must carry a chromosome with this disease, so that it comes to disease.

Symptoms

• Mental retardation
• Microcephaly
• Extreme short stature (usually less than 1 m in the adult state)
• Very low birth weight ( 1200-1500 grams)
• Hüftgelenkdysplasie
• Tooth formation disorders
• Cryptorchidism
• Hirsutism