Auriculoosteodysplasia

Overview

Type of disease: Rare conditions

Auriculo-osteodysplasia is a rare condition that affects bone formation. Auriculo-osteodysplasia belongs to a group of conditions known as bone dysplasias. A bone dysplasia is a general term for a condition that affects how bones grow and develop. Auriculo-osteodysplasia is inherited in an autosomal dominant pattern. This means a person inherits a mutated (changed) gene from a parent in order to have the condition.

Individuals with auriculo-osteodysplasia have an abnormal ear shape and a shortened height. The main characteristic of auriculo-osteodysplasia is an elbow joint deformity called dysplasia of the radiocapitellar joint. Individuals may have mild dysplasia or experience complete dislocation of the joint. A joint is where two or more bones meet. A dislocation is when the bones in a joint separate from each other. Based on the severity of the condition, individuals may experience a limited range of movement in their elbow. Affected individuals may also experience hip dislocation. Other skeletal features of this condition include a widened neck, broad shoulders, and a horizontal clavicle. The clavicle is the collarbone.

Auriculo-osteodysplasia can be diagnosed using x-rays. The x-rays will show the hip and elbow bones, making it possible to see if there are any irregularities. Some individuals with auriculo-osteodysplasia will experience more limited elbow joint movement as they age. If diagnosed at birth, certain symptoms can be reduced. Treatment methods involve the use of braces to prevent possible joint dislocation. If you or a family member has been diagnosed with auriculo-osteodysplasia, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.

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