Bloom Syndrome

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Bloom Syndrome
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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.

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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.

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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).

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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

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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

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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

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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  

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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

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