geroderma osteodysplasticum

A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit t

A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2.

Signs and symptoms

• Osteopenia
• Hyperextensibility of the finger joints
• Premature skin wrinkling
• Hypoplasia of the maxilla
• Neonatal wrinkled skin of hands and feet
• Recurrent fractures
• Intellectual disability
• Tibial bowing
• Severe short stature
• Femoral bowing

Also known as: GO; Walt Disney dwarfism; geroderma osteodysplastica; gerodermia osteodysplastica