Nasu-Hakola disease

Orpha code: 2770OMIM code: 221770

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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