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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.
ORPHA:2078Classification level: Disorder
Prevalence is unknown.
The severe osteoporosis and early spontaneous fractures, together with the absence of large, open fontanels are usually distinguishing features of GO.
Although the etiology in some cases remains unknown, mutations in the GORAB gene (1q24.2) have been identified in some families. Mutations in the PYCR1 gene (17q25.3) have recently been identified in patients with the clinically overlapping phenotypes (wrinkly skin, osteopenia and progeroid features) of GO, autosomal recessive cutis laxa type 2 (ARCL2), wrinkly skin syndrome (WSS), and De Barsy syndrome (DBS; see these terms).
GO is transmitted in an autosomal recessive manner.
Management and treatment
Bisphosphonates can be successfully used in cases with severe osteopenia.
Patients with GO have a normal life expectancy and, in most cases, normal intelligence. There is a spontaneous improvement in the disease course. Bone fractures become less frequent with age.
A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010) Greek (2010, pdf)