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Leri Pleonosteosis

Abstract

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Synonyms of Leri Pleonosteosis

  • Pleonosteosis, Leri Type

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Leri Pleonosteosis is an extremely rare inherited disorder characterized by unusual, flattened facial features, abnormalities of the hands and feet, skeletal malformations, short stature, and/or limitation of joint movements. Characteristic abnormalities of the hands and feet may include unusually broad and/or short thumbs and great toes (brachydactyly) that may be bent outward from the body (valgus position); as a result, the hands may have a "spade-shaped" appearance. Skeletal malformations may include knees that are bent backward (genu recurvitum) and abnormal enlargement of the cartilaginous structures that surround the upper portion of the spinal cord (posterior neural arches of the cervical vertebrae). In addition, affected individuals may develop thickened tissue on the palms (palmar) and forearms. Symptoms may vary from case to case. Leri pleonosteosis is inherited as an autosomal dominant genetic trait.

Organizations related to Leri Pleonosteosis

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., short stature, skeletal deformities, etc.].)

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