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.

Who are the top Acromicric Dysplasia Local Doctors?
Elite
Highly rated in
15
conditions

Yale Medical Foundation, Inc.

Beijing, CN 

Xiaona Lu is in Beijing, China. Lu is rated as an Elite expert by MediFind in the treatment of Acromicric Dysplasia. They are also highly rated in 15 other conditions, according to our data. Their top areas of expertise are Apert Syndrome, Syndactyly, Saethre-Chotzen Syndrome, and Pfeiffer Syndrome.

Elite
Highly rated in
23
conditions

SOBRAPAR Hospital

Campinas, RS, BR 

Cassio Amaral-Raposo is in Campinas, Brazil. Amaral-Raposo is rated as an Elite expert by MediFind in the treatment of Acromicric Dysplasia. They are also highly rated in 23 other conditions, according to our data. Their top areas of expertise are Craniofrontonasal Dysplasia, Syndactyly, Acromicric Dysplasia, and Apert Syndrome.

 
 
 
 
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Elite
Highly rated in
167
conditions

Mackay Memorial Hospital

TPQ, TW 11221

Chih-ping Chen is in Taiwan. Chen is rated as an Elite expert by MediFind in the treatment of Acromicric Dysplasia. They are also highly rated in 167 other conditions, according to our data. Their top areas of expertise are Trisomy 2 Mosaicism, Mosaicism, Hygroma Cervical, and Low Nasal Bridge.

What are the latest Acromicric Dysplasia Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
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Effects of Modulation of the Dopaminergic System Using Methylphenidate on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome
Who are the sources who wrote this article ?

Published Date:updated Last, December

Published By: National Institutes of Health

What are the Latest Advances for Acromicric Dysplasia?
Treatment of calcaneonavicular coalition accompanied by an accessory anterolateral talar facet.
Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.
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Case Report: Anisometropic Astigmatism Secondary to Unilateral Coronal Synostosis.