Acromicric dysplasia

Acromicric dysplasia is a rare bone dysplasia. It is mainly characterized by short stature, short hands and feet, and mild facial dysmorphism. People with this condition may also show characteristic X-ray abnormalities of the hands. The condition falls under skeletal dysplasias, and its features are noticeable in physical examinations and X-ray imaging. The pattern of symptoms can help doctors differentiate it from other forms of bone dysplasia.

People with acromicric dysplasia typically present with short stature, shortened hands and feet, and mild changes in facial features. Characteristic X-ray findings, particularly of the hands, are also common in this condition.

Acromicric dysplasia is linked to changes in the FBN1 gene. This gene is important in the development of connective tissues and bone structure. The specific genetic mutation can affect the normal growth and development of bones.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.