Other potential complications affect multiple systems in the body.
Bloom syndrome is named after New York City dermatologist David Bloom.
A very thin or slim frame with little fat tissue under the skin is common.
Illustration by Michela Buttignol for Verywell Health
A high-pitched voice may also be present.
Experts thinkgastroesophageal reflux(GERD)which is common in Bloom syndrome patientsmay contribute to the feeding issues.
Immunodeficiency
Bloom syndrome patients are usuallyimmunocompromised, meaning the immune system doesn’t work at full capacity.
This makes them more susceptible to getting repeated infections.
Upper respiratory tract, ear, and lung infections are common, especially during infancy and childhood.
Experts believe this is due to a deficiency in immunoglobulins (proteins responsible for fighting off different infections).
Each parent contributes one copy of an abnormal gene to pass down Bloom syndrome.
Genetic counselors will collect information about your family and medical history and offer preconception counseling.
Treatment
There is no cure for Bloom syndrome and no specific treatment for the underlying genetic mutation.
Early and frequent screenings may help produce a better prognosis.
Recommendations include abdominal ultrasounds from birth throughout childhood.
Symptoms include short stature, extreme sun sensitivity, and increased cancer risk.
Treatment aims at reducing symptoms and health risks.
There is currently no cure.
Even though there’s no cure for Bloom syndrome, patients can still live relatively healthy and active lives.
Frequently Asked Questions
What helps with the symptoms of Bloom syndrome?
If desired, reproductive and genetic counseling may help support reduced fertility found in people with Bloom syndrome.
How is Bloom syndrome inherited?
Various mutations in what’s known as the BLM gene cause Bloom syndrome, an inherited autosomal recessive disorder.
Experts think there are dozens of possible BLM gene mutations in people with Bloom syndrome.
Why does Bloom syndrome affect the Jewish population?
What is the life expectancy for someone with Bloom syndrome?
Because people with Bloom syndrome are more susceptible to cancer,life expectancyis often below average.
National Center for Advancing Translational SciencesGenetic and Rare Diseases Information Center.Bloom syndrome.
National Organization for Rare Disorders.Bloom syndrome.
Bloom Syndrome Association.Patient & family handbook.
U.S. National Library of Medicine: Medline Plus.BLM gene.
Flanagan M, Cunniff CM.Bloom syndrome.GeneReviews.
Children’s Healthcare of Atlanta.Bloom syndrome.
