What is the Bloom Syndrome?
Bloom syndrome is a very rare disorder. In The Netherlands we know about 7 affected individuals. In Germany there is a record on 10 persons and in the United States on 170. The syndrome was first described by New York dermatologist David Bloom in 1954. The syndrome has been given his name.There is no treatment for the underlying cause of Bloom syndrome. Only the treatment of the symptoms can be done. Some sorts of cancer are treatable, but affected individuals must be careful on the use of radiation as they are more sensitive to it. An early diagnose of a treatable cancer can be helpful. Bloom syndrome patients should be more attentive in their surveillance for cancer. A close contact with a physician knowledgeable about the syndrome is therefore very important.
Facts about the Bloom Syndrome
Bloom syndrome is a rare genetic inherited disorder, caused by a gene that does not function properly. This creates an unusually high number of breaks or instability along their chromosomes (the structures in the cells of our body that contain our hereditary material – called DNA). This instability causes:
- Short stature
- Sensitivity to sunlight (patchy facial skin colorations).
- Immune system deficiencies (leading to frequent respiratory and bronchial infections).
- An extraordinarily high risk to develop many cancers and leukemia, at early ages.
- A higher incidence of diabetes.
- Infertility in men and reduced fertility in women.
- Shortened life expectations (on av. 24 years).
Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogenHet Bloom-syndroom (BS) is een zeldzame DNA-reparatiestoornis. Dit beeld kan op jonge leeftijd herkend worden aan de hand van de meest kenmerkende symptomen: pre- en postnatale groeiachterstand en...Lees meer
Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is...Lees meer
Abstract DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal- recessive manner, but...Lees meer
Abstract Bloom’s syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLMgene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B...Lees meer
Stichting Bloom Syndrome
Nistelrode, The Netherlands