Disease Information for Achondroplasia

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad forehead/facies
Craniofacial Abnormalities/Congenital
Low Nasal Bridge
Prominent forehead/High forehead
Head Lag Infant Sign
Hypotonia
Neck weakness/head nodding
Short arms/legs
Head Neck Floppy Infant Hypotonia Sign
Intelligence normal
Bowing of extremities
Bowlegged/Genu varus
Dysmorphic dwarfism/short stature
Megalocephaly
Short fingers/toes (Brachydactyly)
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/Bullet shaped vertebral bodies/Spine
XRAY/Thickened shafts long bones
Xray/Vertebral oval deformity
Associated Diseases & Rule outs
Associated Disease & Complications
Achondroplasia
Craniosynostosis
Dwarfism
Glucose intolerance
Kyphoscoliosis
Nanism/dwarfism
Neonatal Hypotonia/Floppy Baby Syndrome
Obstructive sleep apnea/Children
Spinal Canal caudal narrowing
Spinal stenosis syndrome
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Cartilage involvement/disorder (ex)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/FGFR-3 gene abnormality
Pathophysiology/Sporadic/hereditary/process
Process
PROCESS/Autosomal dominant hereditary disease (ex).
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
ACH, Achondroplasia, Achondroplasia (disorder), Achondroplasia syndrome, Achondroplasias, Achondroplastic dwarf, achondroplastic dwarfism, Achondroplastic physique, Achondroplastic physique (finding), chondrodysplasia fetalis, Chondrodystrophia, CHONDRODYSTROPHIA FETALIS, Chondrodystrophia foetalis, Chondrodystrophy syndrome, Congenital osteosclerosis, Dwarf achondroplastic, dwarfism achondroplastic, fetal chondrodysplasia, Osteosclerosis congenita, Physiologic dwarfism, Synonym/Chondrodystrophia fetalis, Synonym/Dwarfism, achondroplastic, Synonym/Fetal rickets syndrome, Synonym/Hypoplastic chondrodystrophy, Synonym/Narrow, Synonym/Parrot's syndrome
Definition

An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

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External Links Related to Achondroplasia
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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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