Disease Information for Achondrogenesis

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Short arms/legs
Intelligence normal
Dysmorphic dwarfism/short stature
Short Limbs Deformity
Dysmorphic appearance/face
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Skeletal malformations
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
X-RAY
XRAY/Thickened shafts long bones
Associated Diseases & Rule outs
Associated Disease & Complications
Achondrogenesis
Dwarfism
Nanism/dwarfism
Disease Mechanism & Classification
Class
CLASS/Cartilage involvement/disorder (ex)
CLASS/Skeletal (category)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dwarfism/miscellaneous skeletal dis (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Achondrogenesis, Achondrogenesis (disorder), Achondrogenesis syndrome, Synonym/Achondrogenesis I/Parenti-Fraccaro, Synonym/Parenti-Fraccaro syndrome
Definition

Achondrogenesis synonyms ; Chondrogenesis Imperfecta; Hypochondrogenesis; Lethal Neonatal Dwarfism; Lethal Osteochondrodysplasia; Neonatal Dwarfism

Subdivisions: Achondrogenesis, Type III; Achondrogenesis, Type IV; Fraccaro Type, Achondrogenesis (Type IB); Houston-Harris Type, Achrondrogenesis (Type IA); Langer-Salidino Type, Achondrogensis (Type II);Discussion: Achondrogenesis is a very rare disorder characterized by extreme short limbed dwarfism, lack of development of ribs and other major bone formation; The head is usually shaped in a normal way (normocephaly) but may be unusually soft depending on the type of achondrogenesis involved; There are several different types of Achondrogenesis, some of which may be life-threatening either in the womb (in utero) or shortly after birth; Achondrogenesis can be inherited as an autosomal or dominant recessive genetic trait----------[NORD 2005]---------------

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External Links Related to Achondrogenesis
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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