Acromicric DysplasiaSymptoms, Doctors, Treatments, Advances & More
Acromicric Dysplasia Overview
Learn About Acromicric Dysplasia
Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.
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.
Acromicric dysplasia is a rare disorder; its prevalence is unknown.
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.
Penn Plastic Surgery Perelman
Scott Bartlett is a Plastic Surgeon practicing medicine in Philadelphia, Pennsylvania. Dr. Bartlett is rated as an Elite provider by MediFind in the treatment of Acromicric Dysplasia. He is also highly rated in 29 other conditions, according to our data. His clinical expertise encompasses Craniosynostosis, Pfeiffer Syndrome, Acrocephalopolydactyly, Osteotomy, and Bone Graft. Dr. Bartlett is board certified in Plastic Surgery, 1987. Dr. Bartlett is currently accepting new patients.
Valerie Daire-Cormier practices practicing medicine in Paris, France. Ms. Daire-Cormier is rated as an Elite expert by MediFind in the treatment of Acromicric Dysplasia. She is also highly rated in 107 other conditions, according to our data. Her clinical expertise encompasses Myhre Syndrome, Polydactyly, Achondroplasia, Brachydactyly Mononen Type, and Adenoidectomy.
Martin Zenker practices practicing medicine in Magdeburg, Germany. Mr. Zenker is rated as an Elite expert by MediFind in the treatment of Acromicric Dysplasia. He is also highly rated in 60 other conditions, according to our data. His clinical expertise encompasses RASopathies, Noonan Syndrome, Syndactyly, and Acromicric Dysplasia.
Background: Proteus syndrome is a rare overgrowth disorder. Most people begin to have symptoms between 6 months and 2 years of age. There are very few living adults with this disease. There is also no known treatment for it. Researchers want to see if a new drug can slow down or stop overgrowth in people with 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...
Published Date: December 01, 2014
Published By: National Institutes of Health