Nasu-Hakola disease

Orpha code: 2770OMIM code: 221770

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
NHD
NHD
plOSL
plO-SL
Wielotorbielowata tłuszczowo-błoniasta osteodysplazja ze stwardniajacą leukoencefalopatią
PLO-SL
PLOSL
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
ORPHA code
2770
OMIM code
221770
ICD10 code
G31.8
ICD11 code
8A44.3

No additional description.

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