Achondrogenesis type 1A
Overview
Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect.
Achondrogenesis
Definition
Achondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.
Achondrogenesis Causes, Symptoms and Treatment and Related Disorders ...
Achondrogenesis type 1B is the most severe skeletal disorder caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone.
Achondrogenesis is inherited, which means it is passed down through families.
Some types are known to be recessive, meaning both parents carry the defective gene and the chance for a subsequent child to be affected is about 25%.
Symptoms ...
Achondrogenesis
National Organization for Rare Disorders, Inc.
Disorder Subdivisions ...
Achondrogenesis
By Michael V. Zuck PhDThe Gale Group Inc., Gale.. Gale Encyclopedia of Genetic Disorders Part I, 2002more »
Definition ...
What is achondrogenesis?
Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities.
Achondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.
Causes
Achondrogenesis is inherited, which means it is passed down through families.
Achondrogenesis is characterized by a disproportionately large head, short trunk, protuberant Abdomen: \r\n The part of the body below the diaphragm (midriff) but above the pelvis. \r\n \r\n \r\n \r\n \r\n');" href="/Home/library/glossaries/abdomen.
Lethal achondrogenesis types I and II are both rare. Their respective incidences are not known; however, the overall frequency has been estimated at 1 in 40,000 births.
Definition of Langer-Saldino type achondrogenesis
Langer-Saldino type achondrogenesis: See: Achondrogenesis type II.
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Achondrogenesis
A genetic disorder of bonwe resulting in short-limbed dwarfism. There are a number of different types of achondrogenesis. See: Achondrogenesis type II.
Achondrogenesis type II, CDRH, Dietary Fats, Unsaturated, Fats, Unsaturated, Femoral Head Prostheses, Fowl Pest, Goiter, Intrathoracic, HIV 1 Envelope Protein gp160, HIV Protein p24, Hydroxylamine, Interference Microscopies, Kinase, PI-3, ...
Achondrogenesis: A group of disorders characterized by abnormal bone and cartilage development.
Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones.
Achondrogenesis
Achondroplasia
Achondroplastic Dwarfism
Acid Ceramidase Deficiency
acid cholesteryl ester hydrolase deficiency, type 2
Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
Acid Maltase Deficiency
Acidemia, Isovaleric ...
developement of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), ...
Lethal forms of short-limbed skeletal dysplasias (eg, thanatophoric skeletal dysplasia, achondrogenesis)
Gut malformations (eg, obstruction)
Diaphragmatic hernia ...
 See also: Symptom, Dysplasia, Dwarfism, Deficiency, Autosomal dominant
  
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