In-depth insights into various childhood syndromes and disorders.
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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 […]
Mucopolysaccharidosis Type 1H, Hurler syndrome is a 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 […]
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 […]
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 developmental regression. The disease is progressive and affects, over time, the brain and spinal cord. Syndrome Synonyms:Heparan Sulfate Sulfatase Deficiency; MPS IIIA; […]
Mucopolysaccharidosis Type IIID is a rare genetic metabolic disorder. It is often also referred to as Sanfilippo 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 […]
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 […]
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 […]
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 […]
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 […]