Pyle disease

ICD-10 Code Q78.5

Pyle disease

Definition

A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.

Also known as Bakwin-Krida syndrome, metaphyseal dysplasia Pyle type, metaphyseal dysplasia, Pyle type, Pyle disease, Pyle-Cohn syndrome, Pyle's disease, Pyle's syndrome — per MONDO

Also identified as