What is Mucopolysaccharidosis Type 1H, Hurler syndrome (MPS1-H)?
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 as:
Mucopolysaccharidosis Type IH; Mps1-H
What gene change causes Mucopolysaccharidosis Type 1H, Hurler syndrome (MPS1-H)?
Changes in the IDUA gene are responsible for causing the syndrome. It is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Mucopolysaccharidosis Type 1H, Hurler syndrome (MPS1-H)?
The main symptoms, which may vary between patients, include heart disease or defects (examples include abnormal heart valve morphology, cardiomyopathy).
The syndrome is characterized by unique facial features. These are an upturned nasal tip, coarse facial features, full cheeks, a large or big face, a short neck, a wide nasal bridge, and thicker eyebrows. Excessive hairiness or hirsutism all over the body is also a common symptom.
Other symptoms associated with the syndrome include cerebral palsy, an enlarged liver, reduced joint mobility, intellectual disability, low muscle tone, and an enlarged spleen.
Possible clinical traits/features:
Frontal bossing, Thick eyebrow, Umbilical hernia, Abnormal pyramidal sign, Scoliosis, Skeletal dysplasia, Progressive neurologic deterioration, Sleep disturbance, Spinal canal stenosis, Splenomegaly, Recurrent respiratory infections, Thick vermilion border, Thick lower lip vermilion, Macrocephaly, Malabsorption, Hypertension, Hypertrophic cardiomyopathy, Hypertrichosis, Kyphosis, Hirsutism, Hydrocephalus, Hernia, Short stature, Hearing impairment, Hepatomegaly, Opacification of the corneal stroma, Hepatosplenomegaly, Hemiplegia/hemiparesis, Hypoplasia of the odontoid process, Short clavicles, Hypoplasia of the femoral head, Depressed nasal bridge, Full cheeks, Glaucoma, Gingival overgrowth, Global developmental delay, Cognitive impairment, Large face, Joint stiffness, J-shaped sella turcica, Microdontia, Mitral regurgitation, Muscular hypotonia, Abnormal CNS myelination, Neurodegeneration, Anteverted nares, Inguinal hernia, Intellectual disability, Broad nasal tip, C1-C2 subluxation, Cardiomyopathy.
How is it diagnosed?
To find out if someone has a diagnosis of Hurler syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
