brachyolmia

An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.

Signs and symptoms

• Platyspondyly
• Childhood-onset short-trunk short stature
• Irregular vertebral endplates
• Disproportionate short-trunk short stature
• Increased upper to lower segment ratio
• Intervertebral space narrowing
• Lumbar hyperlordosis
• Proximal femoral metaphyseal irregularity
• Scoliosis
• Hypermetropia

Also known as: brachyrachia