Bloom Syndrome
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 highpitched 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.
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 manner Autosomal 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.
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).
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
Continue:
What are the signs and symptoms of Bloom Syndrome?
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
What are the signs and symptoms of Bloom Syndrome?
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
Continue:
What are the signs and symptoms of Bloom Syndrome?
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
Continue:
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
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