Learn About Acromicric Dysplasia

What is the definition of Acromicric Dysplasia?

Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.

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What are the causes of Acromicric Dysplasia?

Acromicric dysplasia is caused by mutations in the FBN1 gene, which provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In this matrix, molecules of fibrillin-1 attach (bind) to each other and to other proteins to form threadlike filaments called microfibrils. The microfibrils become part of the fibers that provide strength and flexibility to connective tissues, which support the bones, skin, and other tissues and organs. Additionally, microfibrils store molecules called growth factors, including transforming growth factor beta (TGF-β), and release them at various times to control the growth and repair of tissues and organs throughout the body.

How prevalent is Acromicric Dysplasia?

Acromicric dysplasia is a rare disorder; its prevalence is unknown.

Is Acromicric Dysplasia an inherited disorder?

Acromicric dysplasia is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.

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What are the latest Acromicric Dysplasia Clinical Trials?
The Phenotype and Etiology of Proteus Syndrome

Summary: This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, t...

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Constitution of a Biological Collection to Study the Pathophysiology in Marfan Syndrome and Related Syndromes and to Identify Predictive Factors of Disease Progression

Summary: The present study will establish a collection of biological samples from Marfan patients or with associated diseases to be used for research purposes only, with due respect for confidentiality.

Who are the sources who wrote this article ?

Published Date: December 01, 2014Published By: National Institutes of Health

What are the Latest Advances for Acromicric Dysplasia?
Frontofacial Reconstruction Technique Modification With Preservation of Blood Supply to the Monobloc Segment.
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Case Report: Anisometropic Astigmatism Secondary to Unilateral Coronal Synostosis.