This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.

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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved. These resources provide more information about this condition or associated symptoms.

The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Hurler syndrome. You can help advance rare disease research! Title Other Names:.

This disease is grouped under:. Mucopolysaccharidosis type I. Summary Summary. The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs.

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 MPS1; see this term , a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

Clinical description. Patients present within the first year of life with musculoskeletal alterations including short stature , dysostosis multiplex, thoracic-lumbar kyphosis, progressive coarsening of the facial features including large head with bulging frontal bones, depressed nasal bridge with broad nasal tip and anteverted nostrils, full cheeks and enlarged lips , cardiomyopathy and valvular abnormalities, neurosensorial hearing loss , enlarged tonsils and adenoids, and nasal secretion. Developmental delay is usually observed between 12 and 24 months of life and is primarily in the realm of speech with progressive cognitive and sensorial deterioration.

Hydrocephaly can occur after the age of two. Diffuse corneal compromise leading to corneal opacity becomes detectable from three years of age onwards. Other manifestations include organomegaly, hernias and hirsutism.

Hurler syndrome is caused by mutations in the IDUA gene 4p Diagnostic methods. Early diagnosis is difficult as the first clinical manifestations are not specific. Diagnosis is based on detection of increased urinary excretion of heparan and dermatan sulfate and confirmed by demonstration of enzymatic deficiency in leukocytes or fibroblasts.

Genetic testing is available. Differential diagnosis. Differential diagnoses include the milder form of mucopolysaccharidosis type 1, the Hurler-Scheie syndrome see this term , although this form is associated with only slight cognitive impairment. Differential diagnoses also include mucopolysaccharidosis type 6 and type 2 and mucolipidosis type 2 see these terms. Antenatal diagnosis. Antenatal diagnosis is possible by measurement of enzymatic activity in cultivated chorionic villus or amniocytes and by genetic testing if the disease-causing mutation is known.

Genetic counseling. Transmission is autosomal recessive. Genetic counseling and testing should be offered to couples with a positive family history. Management is multidisciplinary. Hematopoietic stem cell transplantation HSCT is the treatment of choice for patients with Hurler syndrome under 2. HSCT should be performed early in the disease course, before developmental deterioration begins.

Enzyme replacement therapy ERT with laronidase is recommended for all Hurler patients and is a lifelong therapy which alleviates non neurological symptoms. The early use of ERT has been shown to delay or even prevent the development of some of the clinical features of this condition. Additional management of Hurler syndrome is largely supportive, and includes surgical interventions e. Patients often succumb to the condition in the first decade from respiratory and cardiac complications but ERT and HSCT can improve life expectancy.

The timing of diagnosis, and therefore of treatment initiation, is an important factor for the success of both HSCT and laronidase. Visit the Orphanet disease page for more resources. Symptoms Symptoms. Showing of 91 View All. Nasal tip, upturned. Upturned nasal tip. Upturned nose. Upturned nostrils. Disease of the heart muscle. Coarse facial appearance. Depressed bridge of nose. Flat bridge of nose. Flat nasal bridge. Flat, nasal bridge. Flattened nasal bridge. Low nasal bridge.

Low nasal root. Apple cheeks. Big cheeks. Increased size of cheeks. Large cheeks. Excessive hairiness over body. Enlarged liver. Mental deficiency. Mental retardation. Mental retardation, nonspecific.

Big face. Decreased joint mobility. Decreased mobility of joints. Limited joint mobility. Limited joint motion. Low or weak muscle tone. Nasal inflammation. Decreased length of neck. Increased spleen size. Bushy eyebrows. Dense eyebrow. Heavy eyebrows. Prominent eyebrows. Thick eyebrows. Broad nasal bridge. Broad nasal root. Broadened nasal bridge. Increased breadth of bridge of nose. Increased breadth of nasal bridge. Increased width of bridge of nose.

Increased width of nasal bridge.


Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses MPS type I. It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the first decade of life, often from cardiac disease. It is named after Gertrud Hurler , a German pediatrician 1. Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Updating… Please wait.


2015, Número 1

Clarke LA, Heppner J. Mucopolysaccharidosis type I. Gene- Reviews. Eur J Pediatr ; Mucopolysaccharidosis I, Hurler syndrome: a case report.

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