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.
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 108 other conditions, according to our data. Her clinical expertise encompasses Myhre Syndrome, Achondroplasia, Brachydactyly Mononen Type, Polydactyly, and Adenoidectomy.
Arnold Munnich practices practicing medicine in Paris, France. Mr. Munnich is rated as an Elite expert by MediFind in the treatment of Acromicric Dysplasia. He is also highly rated in 77 other conditions, according to our data. His clinical expertise encompasses Acromicric Dysplasia, Polydactyly, Crouzon Syndrome, and Thanatophoric Dysplasia.
Andrew Wilkie practices practicing medicine in Oxford, United Kingdom. Mr. Wilkie is rated as an Elite expert by MediFind in the treatment of Acromicric Dysplasia. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Syndactyly, Craniosynostosis, Acromicric Dysplasia, Saethre-Chotzen Syndrome, and Gastrostomy.
Summary: Syndromic craniosynostoses (SCS) are rare genetic disorders defined by premature cranial suture fusion, resulting in abnormal craniofacial development and constrained brain growth. These conditions, including Muenke, Saethre-Chotzen, Crouzon, Apert, Pfeiffer and craniofrontonasal syndromes, are typically caused by gain- or loss-of-function variants in key regulators of suture biology such as FGFR1...
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