World Library  
Flag as Inappropriate
Email this Article

Atelosteogenesis, type II

Article Id: WHEBN0001492163
Reproduction Date:

Title: Atelosteogenesis, type II  
Author: World Heritage Encyclopedia
Language: English
Subject: Achondrogenesis type 1B, Autosomal recessive multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia, SLC26A2, Mesomelia
Collection: Autosomal Recessive Disorders, Rare Diseases
Publisher: World Heritage Encyclopedia
Publication
Date:
 

Atelosteogenesis, type II

Atelosteogenesis, type II
Classification and external resources
OMIM 256050
DiseasesDB 33349

Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is extremely rare, and infants with the disorder are usually stillborn, however those that survive birth die soon after from respiratory failure.

Contents

  • Symptoms 1
  • Genetics 2
  • References 3
  • External links 4

Symptoms

Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (cleft palate), distinctive facial features, an inward- and downward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).

The signs and symptoms of atelosteogenesis, type 2 are similar to those of another skeletal disorder called diastrophic dysplasia. Atelosteogenesis, type 2 tends to be more severe, however.

Genetics

Atelosteogenesis, type II has an autosomal recessive pattern of inheritance.

Atelosteogenesis, type 2 is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. The protein made by this gene is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis, type 2.

This condition is an autosomal recessive disorder, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - must be inherited for a child to be born with the disorder. The parents of a child with an autosomal recessive disorder are not affected by disorder, but are carriers of one copy of the altered gene.

References

This article incorporates public domain text from The U.S. National Library of Medicine

External links

  • GeneReviews/NCBI/NIH/UW entry on Atelosteogenesis Type 2,McAlister Dysplasia, de la Chapelle Dysplasia
  • OMIM entries on Atelosteogenesis Type 2
This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and USA.gov, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for USA.gov and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
 
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
 
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.
 


Copyright © World Library Foundation. All rights reserved. eBooks from Project Gutenberg are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.