1 / 10

Bloom Syndrome

Bloom Syndrome is a disorder that is characterized by a significantly increased risk of cancer and various other features.<br>

lazoithelife
Download Presentation

Bloom Syndrome

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Bloom Syndrome

  2. Bloom Syndrome Bloom Syndrome is a disorder that is characterized by a significantly increased risk of cancer and various other features.Signs and symptoms of bloom Syndrome involves short stature sun-sensitive skin changes on the face, hands or arms a high-pitched voice and distinctive facial features including a long, narrow face, small lower jaw, large nose and prominent ears.Some affected individuals can also have learning disabilities an increased risk of diabetes chronic obstructive pulmonary disease (COPD) and recurrent infections of the upper respiratory tract, ears, and lungs during infancy.

  3. What are the causes of Bloom Syndrome? The exact cause of development of Bloom Syndrome is presently unknown. It is a genetic disorder involving the BLM gene that is transmitted in an autosomal recessive mannerAutosomal recessive: The conditions of autosomal recessive are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome.If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children.

  4. Continue: What are the causes of Bloom Syndrome? • The individual will be a carrier of the condition if only one mutant copy of the gene is inherited, but will not be present with any symptoms.Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

  5. What are the signs and symptoms of Bloom Syndrome? The signs and symptoms of Bloom Syndrome may include: • Agenesis of maxillary lateral incisor • Bronchiectasis • Chronic lung disease • Clinodactyly of the 5th finger      • Cryptorchidism • Hypertrichosis • Leukemia • Prominent nose • Specific learning disability • Spotty hypopigmentation • Type II diabetes mellitus

  6. What are the signs and symptoms of Bloom Syndrome? Continue: Based on the frequency of symptoms observed, the following information may be noted: Very frequently present symptoms in 80-99% of the cases: • Abnormality of chromosome stability • Delayed skeletal maturation • Diarrhea • Dolichocephaly • Erythema • Facial telangiectasia in butterfly midface distribution • Intrauterine growth retardation • Malar flattening

  7. What are the signs and symptoms of Bloom Syndrome? Continue: • Narrow face • Postnatal growth retardation • Recurrent respiratory infections • Sinusitis • Spotty hyperpigmentation Frequently present symptoms in 30-79% of the cases: • Cutaneous photosensitivity • High pitched voice • Hypoplasia of the zygomatic bone • Short nose

  8. What are the signs and symptoms of Bloom Syndrome? Continue: Occasionally present symptoms in 5-29% of the cases: • Acute leukemia • Azoospermia • Decreased fertility in females • Finger syndactyly • Hand polydactyly • Hyperhidrosis • Hypopigmented skin patches • Ichthyosis • IgA deficiency     • IgG deficiency  

  9. Continue: What are the signs and symptoms of Bloom Syndrome? • IgM deficiency • Intellectual disability, mild • Lymphoma • Microcephaly • Neoplasm of the gastrointestinal tract    • Protruding ear • Reduced number of teeth • Sacral dimple • Squamous cell carcinoma

  10. CONNECT WITH US Logon to www.lazoi.com Like us on Facebook https://www.facebook.com/LazoiTheLife Follow us on Twitter https://www.twitter.com/lazoithelife Follow us on Pinterest https://www.in.pinterest.com/lazoithelife

More Related