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Dictionary » Morquio syndrome, type B
 

Morquio syndrome, type B

Introduction: Morquio syndrome, type B

Description of Morquio syndrome, type B

Morquio syndrome, type B (medical condition): A rare inherited biochemical disorder characterized by the accumulation of...more »

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Morquio syndrome, type B:
  »Introduction: Morquio syndrome, type B
  »Symptoms of Morquio syndrome, type B

Morquio syndrome, type B: A ganglioside storage disorder due to beta-galactosidase (EC 3.2.1.23) deficiency and abnormal accumulation of GM1 ganglioside in neurons and in hepatic, splenic and other histiocytes and in renal glomerular epithelium due. The symptoms appear shortly after birth; they include retarded psychomotor development, failure to thrive, startle reaction to sounds, feeding difficulty, hepatosplenomegaly, Hurler (gargoyle-like) facies (coarse facial features, macrocephaly, broad nose, frontal bossing, long philtrum, prominent maxilla, and macroglossia), bone defects similar to those seen in Hurler syndrome (mainly dysostosis multiplex and long bone and vertebral anomalies), and other abnormalities. Severe cerebral degeneration follows with death in the first two years of life usually due to bronchopneumonia. The affected infants are often blind, deaf, and quadriplegic.
Source: Diseases Database

Morquio syndrome, type B: Related Topics

These medical condition or symptom topics may be relevant to medical information for Morquio syndrome, type B:

Morquio syndrome, type B: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Morquio syndrome, type B is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Morquio syndrome, type B, or a subtype of Morquio syndrome, type B, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Morquio syndrome, type B as a Disease

Morquio syndrome, type B (medical condition): See Morquio syndrome, type B (disease information).
  »Introduction: Morquio syndrome, type B
  »Symptoms of Morquio syndrome, type B

Morquio syndrome, type B: Related Diseases

Morquio syndrome, type B: Morquio syndrome, type B is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Morquio syndrome, type B:

Morquio syndrome, type B: Related Disease Topics

These medical disease topics may be related to Morquio syndrome, type B:

Terms associated with Morquio syndrome, type B:

Terms Similar to Morquio syndrome, type B:

Source: Diseases Database

Source - NIH

External links related to: Morquio syndrome, type B

Source: Diseases Database

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