Geroderma osteodysplasticum

Any developmental anomaly of metabolic origin caused by a variation in the GORAB gene. This condition is a segmental progeroid disorder characterized by lax, wrinkled skin; typical facial features including droopy cheeks, malar and mandibular hypoplasia, and a prematurely aged appearance; and severe osteoporosis leading to frequent fractures. Additional features may include joint hypermobility, short stature, and skeletal abnormalities and, rarely, developmental delay and intellectual disability.