Achondroplasia and Swiss Type Agammaglobulinemia

What is Achondroplasia and Swiss Type Agammaglobulinemia?

Achondroplasia and Swiss Type Agammaglobulinemia (aka. Short-limb skeletal dysplasia with severe combined immunodeficiency) is a rare congenital disorder. The presentation of symptoms may occur at birth. Achondroplasia and Swiss Type Agammaglobulinemia is an extremely rare type of SCID.

Children with this condition have a shortened life expectancy, generally surviving only into early childhood. Both males and females may be affected. Worldwide, individuals of all racial and ethnic groups may be affected

What are the symptoms of Achondroplasia and Swiss Type Agammaglobulinemia?

Common symptoms of Achondroplasia and Swiss Type Agammaglobulinemia include the following:

Severe combined immunodeficiency
Severe and recurrent infections especially in the respiratory system
Diarrhea
Cellular immunodeficiency
Abnormally low level of lymphocytes in the blood
Fine hair
Reduced bone mineral density
skeletal anomalies like short stature
Low levels of protective immunoglobulins, a type of antibody

What causes Achondroplasia and Swiss Type Agammaglobulinemia?

The condition is inherited in an autosomal recessive manner. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. The gene mutation that causes Achondroplasia and Swiss Type Agammaglobulinemia is not known. A positive family history may be an important risk factor, since Achondroplasia and Swiss Type Agammaglobulinemia can be inherited. This condition has no other risk factors outside of heredity.

How is Achondroplasia and Swiss Type Agammaglobulinemia diagnosed?

Achondroplasia and Swiss Type Agammaglobulinemia is diagnosed on the basis of the following information:

Complete physical examination
Thorough medical history evaluation
Assessment of signs and symptoms
Laboratory tests
Imaging studies
Biopsy studies, if necessary

What are the treatments for Achondroplasia and Swiss Type Agammaglobulinemia?

Genetic conditions usually don’t have a cure. The treatment regimen used for Achondroplasia and Swiss Type Agammaglobulinemia focuses on managing the signs and symptoms of the disease and it’s complications.

Where can I find out more about Achondroplasia and Swiss Type Agammaglobulinemia?