Seckel syndrome is a rare type of dwarfism that is caused by a congenital defect. Seckel syndrome is inherited in an autosomal recessive pattern and has been linked to genetic mutations on chromosomes 3, 18, and 14. How often Seckel syndrome occurs is not exactly known, but more than 100 cases have been reported in the medical literature. Many children diagnosed with Seckel syndrome are born to parents who are consanguineous, or closely related. This often causes prominent physical malformations, including a very short stature and a bird-like appearance. Serious mental retardation and blood disorders are also present in the majority of Seckel syndrome patients.
Helmut Paul George Seckel was a prominent German physician who immigrated 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 to this type of dwarfism is also known as Harper's syndrome, which was named after Dr. Rita G. Harper.
Seckel syndrome is very rare, and only a handful of infants are diagnosed with it. It is believed to be a genetic disorder. Individuals born with this disorder typically have mutated chromosomes.These mutations can cause several physical mutations. An infant with Seckel syndrome will usually be born with a very low birth weight, due to improper growth prior to birth. Most of these infants will usually only weigh around 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 will also usually have a number of other physical mutations. Their heads are usually smaller than average, with very large eyes and a small jaw and chin. These patients may also have a beak-like nose, similar to the beaks of some birds. Other bones and joints may also be affected, particularly those in the hips and elbows.
Roughly a quarter of all Seckel syndrome patients also suffer from some sort of blood disorder. Anemia and blood cancer are two examples of this. 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 Seckel syndrome patients. This mental disorder might be mild in some cases, but it is usually severe. It is estimated that more than half of all patients suffering from this disorder also suffer from severe mental retardation.
Treatment for Seckel syndrome usually focuses on the treatment of any accompanying medical problems. Patients with blood disorders, for example, will be treated for these disorders. Parents of children with this disorder must also usually learn to cope with a mentally retarded child. Therapy and counseling can be helpful regarding this issue.