Geroderma osteodysplasticum Q82.8

Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin on the back of the hands and feet and abdomen, signs of progeria, hip luxation, dwarfism, hyperextensible joints, osteoporosis, vertebral anomalies, spontaneous fractures, prognathism, and an elongated and wrinkled face and mild intellectual deficits.

Prevalence: <1 / 1 000 000

This is caused by mutations in the GORAB gene (SCYL1BP1). There are large phenotypic parallels (progeroid characteristics) with cases where mutations in the PYCR1 gene (ARCL3B) were detected (Yildirim Y et al. 2010).

Newborn age

Bisphosphonates can be used successfully in severe osteopenia

Patients with GO have a normal life expectancy, in most cases the intelligence is normal. In the course of the disease the symptoms improve, especially the frequency of bone fractures decreases with age.

1. Kouwenberg D et al (2011) Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.Am J Med Genet A 155A:2331-2332
2. Scherrer DZ et al (2013) Mutations in PYCR1 genes in three families with autosomal recessive cutis laxa, type 2 Eur J Med Genet 56: 336-339.
3. Yildirim Y et al (2010) The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2 at J Med Genet A 155A:134-140.