Resources- Specific Diagnosis Card Catalog- Bloom Syndrome

Related Terms: Congenital Telangiectatic Erythema

Who to Contact

Bloom's Syndrome Registry
NY Blood Center
310 East 67th Street
New York, NY 10021
(212) 570-3075
Fax: (212) 570-3195

This is a research effort dedicated to collecting clinical and genetic information about Bloom’s Syndrome, a rare inherited disorder characterized by short stature; a sun-sensitive redness in a "butterfly pattern" on the face; and susceptibility to infections and proness to develop cancer of many types. Established in 1960, the Bloom’s Syndrome Registry meets with affected individuals and their families, compiles information concerning their pedigree history, and collects and preserves DNA and biological specimens. In addition, the Registry maintains copies of affected individuals’ medical records and updates these records with new clinical findings and medical progress. The Registry conducts ongoing research using registry data and speciment and publishes regular reports and reviews in medical journals.

Center for Genetic Jewish Disease
Mount Sinai School of Medicine
Box 1497, One Gustave L. Levy Place
New York, NY 10029
212-659-6774
Web: www.mssm.edu/jewish_genetics/

This is a not-for-profit voluntary health and research organization devoted to supporting medical research and informing the public and medical communities about the seven most common Jewish genetic diseases. These diseases include Gaucher Disease, Dystonia, Familial Dysautonomia, Tay-Sach’s Disease, Bloom Syndrome, Niemann-Pick Disease, and Mucolipidosis IV. The National Foundation for Jewish Genetic Diseases aims to advance progress toward the cure and/or prevention of these disorders. The major efforts of the Foundation are directed to help physicians and researchers understand the nature of these rare genetic diseases so that newer and better means of diagnosis, management, treatment, and prevention can be developed. Informational fact sheets on each of these diseases are produced by the Foundation and describe the specific nature of the genetic defect, diagnostic tests, and available disease management and treatments. The National Foundation for Jewish Genetic Diseases also supports research and training programs through endowed scholarship programs and direct funding to academic and medical research centers.

Where to go to Chat with Others?

We are unaware of any discussion groups or forums specifically for this diagnosis

Learn More About It

Bloom Syndrome

Bloom Syndrome from eMedicine

Bloom Syndrome

Bloom Syndrome from OMIM

Links

Human Growth Foundation

MAGIC Foundation for Children's Growth