Geroderma osteodysplastica

Orpha code: 2078OMIM code: 231070

Definition

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

Disease data
Classification

Malformation syndrome

Synonyms
Karłowatość Walta Disneya
ORPHA code
2078
OMIM code
231070
ICD10 code
Q82.8
ICD11 code
LD2B

No additional description.

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