geroderma osteodysplastica
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.
MONDO:0019704
obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
excluded_subClassOf
MONDO:0100237
inherited cutis laxa
is_a
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
GERODERMA OSTEODYSPLASTICUM
related
GO
related
Geroderma osteodysplasticum
related
geroderma osteodysplastica
exact