Disease Information for Metatropic dwarfism (Kneist Dysplasia)

TYPE I Metatropic Dysplasia I; Chondrodystrophy, Hyperplastic Form; Dwarfism, Metatropic ; Metatropic Dwarfism; Metatropic Dwarfism Syndrome; Metatropic Dysplasia; Metatropic Dysplasia I is a rare genetic disorder characterized by extremely small stature, with short arms and legs; Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism; -----------[NORD 2005]-------------

type II below: Kniest Dysplasia; Kniest Syndrome;

Kniest chondrodystrophy; Metatropic dwarfism, type II;

Metatropic dysplasia, type II; Swiss Cheese Cartilage Syndrome; Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1; This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential for the normal development of bones and other connective tissue; Changes in the composition of type 2 collagen lead to abnormal skeletal growth and, thus, to a variety of dwarfing conditions known as skeletal dysplasias;

Some of the signs and symptoms of Kniest dysplasia, such as short stature, enlarged knees, and cleft palate, are usually present at birth; Other characteristics may not appear for two or three years----------[nord 2005]----------------------------------

A congenital form of chondrodystrophy with severe dwarfism and kyphoscoliosis; The symptoms consist of peculiar facies with midfacial hypoplasia, saddle nose, and occasional shallow orbits with protruding eyes; short trunk with dorsal kyphosis, lumbar lordosis, and, less frequently, thoracic scoliosis in the later course of the disease; short and broad thorax with sternal protrusion; short arms and legs with prominent joints and restricted joint mobility; cleft palate; hearing loss; occasional myopia; retinal detachment; and club feet; Some manifestations, such as short stature, prominent knees, cleft palate, and/or club feet, may be present at birth, but the full expression usually occurs by the age of 3 years; Intelligence normal; Inheritance is autosomal dominant X-linked-------------[whonamedit_com 2005]--------

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