Paula and Bobby
Parents of Lillie
Hurler syndrome
What is Hurler syndrome?
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
What gene changes cause Hurler syndrome?
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 Hurler syndrome?
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, short neck, 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, Calvarial
How does someone get tested for Hurler syndrome?
The initial testing for Hurler syndrome can begin with facial analysis screening with FDNA’s AI technology, which can identify the key markers of the syndrome and outline the need for further testing.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing
Informações médicas sobre Hurler syndrome
Deficiency of alpha-L-iduronidase results in Hurler syndrome (MPS IH, a severe form), Scheie syndrome (MPS IS, a mild form), and Hurler-Scheie syndrome (MPS IH/S, an intermediate form).
Bruni et al. (2016) reviewed 168 patients with mucopolysaccharidosis type I (Hurler syndrome). Main clinical characteristics in order of frequency included coarse facies, valvular disease, corneal clouding, hepatomegaly, upper airway obstruction, kyphosis, joint contractures, hernia, dysostosis multiplex, cognitive impairment, enlarged tongue, splenomegaly, and otitis media.
Kwak et al. (2016) described seven patients with biochemically confirmed Hurler syndrome. The age at diagnosis was between 1 and 33 years. Clinical characteristics included acoarse facies, corneal clouding and skeletal abnormalities in all patients. The other most frequent characteristics were hepatosplenomegaly, cardiac abnormalities, hernias, intellectual disability and growth retardation. One patient had severe disease, other had attenuated disease and the remaining five were mildly affected.
Schmidt et al. (2016) reviewed the musculoskeletal manifestations in 19 patients that underwent hematopoietic stem cell transplantation. Improvement in joint mobility and in the degree of odontoid hypoplasia was observed. Thoracolumbar kyphosis, scoliosis, hip dysplasia and genu valga were progressive despite stem cell transplantation.
* This information is courtesy of the L M D.
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