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Start free with EleplanHurler syndrome
ORPHA:93473Clinical subtype
Also called Hurler disease · MPS1H · MPSIH · Mucopolysaccharidosis type 1H · Mucopolysaccharidosis type IH
What it is
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), 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.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
26- Abnormal heart valve morphology
- Abnormality of the skeletal system
- Abnormality of the tonsils
- Abnormal vertebral morphology
- Anteverted nares
- Cardiomyopathy
- Cerebral palsy
- Coarse facial features
- Depressed nasal bridge
- Frontal bossing
- Full cheeks
- Generalized hirsutism
- Global developmental delay
- Hepatomegaly
- Hernia
- Hypotonia
- Intellectual disability
- Large face
- Limitation of joint mobility
- Mucopolysacchariduria
- Rhinitis
- Short neck
- Skeletal dysplasia
- Splenomegaly
- Thick eyebrow
- Wide nasal bridge
Common30–79%
27- Abnormal diaphysis morphology
- Abnormality of epiphysis morphology
- Abnormality of the clavicle
- Abnormality of the elbow
- Abnormal rib morphology
- Camptodactyly of finger
- Chronic diarrhea
- Corneal opacity
- Death in infancy
- Depression
- Dolichocephaly
- Everted lower lip vermilion
- Feeding difficulties
- Glaucoma
- Growth delay
- Hearing impairment
- Hydrocephalus
- Hypertension
- Macroglossia
- Mongolian blue spot
- Narrow pelvis bone
- Recurrent respiratory infections
- Retinopathy
- Scoliosis
- Short stature
- Sleep abnormality
- Thick vermilion border
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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