Bloom Syndrome - PowerPoint PPT Presentation

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Bloom Syndrome

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Bloom Syndrome is a disorder that is characterized by a significantly increased risk of cancer and various other features. – PowerPoint PPT presentation

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Title: Bloom Syndrome


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

10
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