Childhood Syndromes and Disorders

Articles about Childhood Syndromes and Disorders

• Syndromes & Disorders

  

  Mucopolysaccharidoses

  Mucopolysaccharidoses refers to a group of inherited metabolic disorders. There are 7 specific genetic disorders within this group. The condition is progressive, and symptoms can vary significantly, even among individuals within the same family. Most individuals are diagnosed in either childhood or adolescence. The Mucopolysaccharidoses group of disorders affects around 1 in 25,000 children a year. Health conditions related to the syndrome may include heart and respiratory disease and severe sleep apnea. Enlarged organs are also a potential health complication in individuals with the syndrome. Shared characteristics of all mucopolysaccharidoses include growth and/or developmental delay, coarse facies, skeletal dysplasia, hernia, and corneal clouding. Syndrome Synonyms: Mps V, Formerly; Mps5, Formerly Mucopolysaccharidosis Type Is; Mps1-s Mucopolysaccharidosis Type V, Formerly

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• Syndromes & Disorders

  

  Mucopolysaccharidosis Type 1H, Hurler syndrome (MPS1-H)

  This genetic syndrome rare lysosomal disease. Features of the syndrome include skeletal abnormalities, heart disease, intellectual disability and development delay. The disease is also associated with a reduced life expectancy. In Europe the disease is estimated to occur in 1 in every 200,000 people. This syndrome is also known as: Mucopolysaccharidosis Type Ih; Mps1-h

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• Syndromes & Disorders

  

  Mucopolysaccharidosis Type II (MPS2)

  Mucopolysaccharidosis Type 2 is a progressive genetic disorder. Children born with the syndrome are usually healthy at birth, and symptoms usually develop from the age of 2 years or slightly older. The disease has two types: severe and mild, with varying degrees of symptoms between the types. The disorder is rare and occurs in anywhere between 1 in 100-170,00 live births. Due to the way in which it is inherited, it affects mainly males. Syndrome Synonyms: Hunter Syndrome Ids Deficiency Iduronate 2-sulfatase Deficiency Mps Ii MPSII Mucopolysaccharidosis type II Sids Deficiency Sulfoiduronate Sulfatase Deficiency

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• Syndromes & Disorders

  

  Mucopolysaccharidosis Type IIIA (MPS3A)

  Mucopolysaccharidosis Type IIIA is a rare genetic metabolic disorder. It is often also referred to as Sanfilippo syndrome. The disease usually presents itself post infancy in early childhood, and a major symptom is a developmental regression. The disease is progressive and affects, over time, the brain and spinal cord. Syndrome Synonyms: Heparan Sulfate Sulfatase Deficiency Mps Iiia MPS IIIA-D MPSIII Mucopolysaccharidosis III Mucopolysaccharidosis type III Sanfilippo Syndrome A Sulfamidase Deficiency

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• Syndromes & Disorders

  

  Mucopolysaccharidosis Type IIID (MPS3D)

  Mucopolysaccharidosis Type IIID is a rare genetic metabolic disorder. It is often also referred to as Sanfillipo D. The disease usually presents itself post infancy, in early childhood anywhere between the ages of 2 and 6 years old. A major defining symptom of this rare disease is global developmental delay and neurological deterioration. Syndrome Synonyms: Mps Iiid MPSIII Mucopolysaccharidosis type III N-acetylglucosamine-6-sulfatase Deficiency Sanfilippo Syndrome

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• Syndromes & Disorders

  

  Mucopolysaccharidosis Type IVA (MPS4A)

  Mucopolysaccharidosis, Type IVA; MPS4A is a rare genetic metabolic disorder. It is often also referred to as Morquio syndrome. The disease may present at birth or later age. The syndrome is progressive but may develop at either a slow or fast rate depending on the type the individual develops. This syndrome is also known as: Galactosamine-6-sulfatase Deficiency Galns Deficiency Morquio A Disease Morquio Syndrome A Mps Iva MPSIV Mucopolysaccaridosis type IV Mucopolysaccharidosis type_IV

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• Syndromes & Disorders

  

  Mucopolysaccharidosis Type VI (MPS6)

  Mucopolysaccharidosis Type VI; MPS6 is a rare genetic disorder and lysosomal storage disease. It is often also referred to as Maroteaux-Lamy Syndrome. The disease may present at birth or later age. The syndrome is progressive but may progress at either a slow or fast rate depending on the type the individual develops. This syndrome is also known as: Arsb Deficiency Arylsulfatase B Deficiency Maroteaux-lamy Syndrome Mps Vi MPSVI Mucopolysaccharidosis type VI N-acetylgalactosamine-4-sulfatase Deficiency

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• Syndromes & Disorders

  

  Mucopolysaccharidosis, Type IIIB (MPS3B)

  It is a subtype of Mucopolysaccharidosis, Type III. There are four subtypes of this form of the syndrome. Known as a form of childhood dementia the syndrome causes brain damage that is eventually fatal. Type B is the second most common subtype, after Type A. Except in some Southern European countries where it is the most common subtype. This syndrome is also known as: MPS IIIA-D Mps Iiib MPSIII Mucopolysaccharidosis III Mucopolysaccharidosis type III N-acetyl-alpha-d-glucosaminidase Deficiency Naglu Deficiency Sanfilippo Syndrome B

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• Syndromes & Disorders

  

  Mucopolysaccharidosis, Type IIIC

  It is a subtype of Mucopolysaccharidosis, Type III. There are four subtypes of this form of the syndrome. Known as a form of childhood dementia the syndrome causes brain damage that is eventually fatal. Type C is the mildest subtype of the syndrome. It’s symptoms are less severe than the other three types, and affected individuals generally have a higher life expectancy, usually into early adulthood. This syndrome is also known as: Acetyl-coa:alpha-glucosaminide N-acetyltransferase Deficiency MPS IIIA-D Mps Iiic MPSIII Mucopolysaccharidosis III Mucopolysaccharidosis type III Sanfilippo Syndrome C

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