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Start free with EleplanNasu-Hakola disease
ORPHA:2770Malformation syndrome
Also called NHD · PLO-SL · PLOSL · Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
What it is
Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Finland)
- Age of onset
- Adolescent, Adult
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
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%
17- Abnormal adipose tissue morphology
- Abnormality of epiphysis morphology
- Arthralgia
- Atypical behavior
- Bone cyst
- Bone pain
- Cerebral cortical atrophy
- Developmental regression
- Disinhibition
- Frontal lobe dementia
- Irritability
- Limitation of joint mobility
- Memory impairment
- Personality changes
- Reduced bone mineral density
- Skeletal dysplasia
- Ventriculomegaly
Common30–79%
8These 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.
Genes
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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