In-depth insights into various childhood syndromes and disorders.
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Mowat-Wilson syndrome is a genetic disorder that often presents with Hirschsprung disease, which is an intestinal disorder. Intellectual disability, delayed mental and motor development, as well as a wide variety of neurocristopathies (abnormalities of cells derived from the embryonic cellular structure known as neural crest), are frequently found in this syndrome. Syndrome Synonyms:Microcephaly, Mental Retardation […]
It is a group of metabolic diseases, also known as lysosomal storage diseases, all of which are inherited. There are four main types of Mucolipidosis diseases. They affect the body’s renewal of material within cells. This in turn leads to a build-up of higher-than-normal levels of carbohydrates and lipids (fatty materials) in the cells. This […]
Mucolipidosis II syndrome is a rare genetic condition that affects multiple parts and systems of the body. It is also known as I-cell disease, and as a lysosomal storage disorder. It is a progressive disorder meaning symptoms worsen with time. Syndrome Synonyms:I-Cell Disease; ICD; ML II Alpha/Beta; ML2; MLII; Mucolipidosis II; Ml II; Mucolipidosis type-II; […]
Mucolipidosis Type IV is a rare genetic condition first identified in 1974. Between then and 2010 only around 70 cases have been diagnosed. 70% of the cases of the syndrome are in individuals of Ashkenazi Jewish ancestry. This lysosomal storage syndrome is metabolic and progressive. Characteristic features of the syndrome include delayed psychomotor development and […]
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 […]