Disease Information for Metatropic dwarfism (Kneist Dysplasia)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Depressed nasal bridge
Face broad/flat midface
Facies particular
Midfacial hypoplasia/flat face dysmorphism
Round face
Uvula anomaly/deformity
Short arms/legs
Broad/shield like chest
Dysmorphic dwarfism/short stature
Enlarged/deformed joints
Foot deformity
Joint Swelling
Joint/limit range of motion
Large knees
Leg/trunk proportion abnormality/sign
Lumbar lordosis/excess
Short Limbs Deformity
Shortened Truncal axial skeleton
Sternum deformities
Stiffness of joints
Trunk shorted/deformity
Saddle Nose Deformity
Snoring
Dysmorphic appearance/face
Short stature
Short stature Child
Prominent eyes
Stare/prominent eyes
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Deafness
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Neonate-newborn
Laboratory Tests
Abnormal Lab Findings - Increased
URINE Keratan sulfate
URINE Mucopolysaccharides
Diagnostic Test Results
CT Scan
CT/Dexa-Scan Bone density Abnormal
X-RAY
Xray/Ribs thickened/short
Associated Diseases & Rule outs
Associated Disease & Complications
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Clubbed foot/congenital
Deafness
Deafness, congenital
Deafness, sensorineural
Dwarfism
Facial dysplasia
Kniest Metatropic dysplasia syndrome
Kyphoscoliosis
Kyphosis
Limb deformities/anomalies
Male osteoporosis syndrome
Metatropic dwarfism
Myopia
Nanism/dwarfism
Osteoporosis/osteopenia
Pathologic fractures
Pectus carinatum/pigeon chest
Rib anomalies/Hypoplastic/deformed
Skeletal dysplasia
Skeletal/bone malformations
Metabolic Bone Disease
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Skeletal (category)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Defect in Type 2 collagen formation
Pathophysiology/Osteoporosis Secondary
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Gene COL2A1 mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Metatropic dwarfism (Kneist Dysplasia), Synonym/Kniest dwarfism syndrome, Synonym/Kniest dysplasia, Synonym/Metatropic Dysplasia II, Synonym/Swiss Cheese Cartilage syndrome
Definition

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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External Links Related to Metatropic dwarfism (Kneist Dysplasia)
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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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