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Seckel syndrome is a rare genetic disorder causing dwarfism, physical malformations, blood disorders, and severe mental retardation. It was first described by Helmut Paul George Seckel and is diagnosed in only a few newborns. Treatment focuses on managing associated medical problems and providing support for mentally challenged children.
Seckel syndrome is a rare type of dwarfism caused by a birth defect. This often causes prominent physical malformations, including a very short stature and a bird-like appearance. Severe mental retardation and blood disorders are also present in most patients with Seckel syndrome. Doctors usually try to cure blood disorders and parents have to learn how to take care of a mentally challenged child.
Helmut Paul George Seckel was a prominent German physician who emigrated to the United States during World War II. In 1960, Seckel was the first physician to describe this disorder. It is also sometimes referred to as microcephalic primordial dwarfism, bird-headed dwarfism, and Virchow-Seckel dwarfism. A variant of this type of dwarfism is also known as Harper’s syndrome, named after Dr. Rita G. Harper.
Seckel syndrome is very rare and is only diagnosed in a handful of newborns. It is believed to be a genetic disease. Individuals born with this disorder typically have mutated chromosomes.
These mutations can cause different physical mutations. A baby with Seckel syndrome is usually born with a very low birth weight, due to improper growth before birth. Most of these babies usually weigh only about 3 pounds (1,360.8 grams) at birth. As with most other types of dwarfism and growth disorders, these children will always be much shorter than other people.
Patients with Seckel syndrome usually have a number of other physical mutations as well. Their heads are usually smaller than average, with very large eyes and a small jaw and chin. These patients may also have a beaked nose, similar to the beak of some birds. Other bones and joints may also be affected, especially those in the hips and elbows.
About a quarter of all patients with Seckel syndrome also suffer from some sort of blood disorder. Anemia and blood cancer are two examples. A condition known as pancytopenia can also occur. This disorder is characterized by a lower than normal number of blood cells in the body.
Mental retardation is also very common in patients with Seckel syndrome. This mental disorder might be mild in some cases, but is usually severe. It is estimated that more than half of all patients with this disorder also suffer from severe mental retardation.
Treatment for Seckel syndrome usually focuses on treating any associated medical problems. Patients with blood disorders, for example, will be treated for these disorders. Parents of children with this disorder also usually have to learn how to handle a mentally retarded child. Therapy and counseling can be helpful regarding this issue.
