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Definition of the noun achondroplasia
What does achondroplasia mean as a name of something?
noun - plural: achondroplasias
- an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
- lexical domain: States - nouns denoting stable states of affairs
- synonyms of achondroplasia: achondroplasty / chondrodystrophy / osteosclerosis congenita
- more generic terms: congenital disease / genetic abnormality / genetic defect / genetic disease / genetic disorder / hereditary condition / hereditary disease / inherited disease / inherited disorder = a disease or disorder that is inherited genetically
Alternative definition of the noun achondroplasia
- [teratology] A genetic disorder, the most common form of short limb dwarfism.
Printed books with definitions for achondroplasia
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with STUDENT CONSULT Online Access by Linda R. Adkison
Achondroplasia is the most common of the dwarfism syndromes and is caused by mutations in the fibroblast growth factor receptor. □ Common muscle cell diseases are Duchenne and Becker muscular dystrophies. These are allelic ...
Handbook of Clinical Neurology (Series Editors: Aminoff, Boller and Swaab) by José Biller, José M. Ferro
Since achondroplasia is an autosomal dominant condition, there is a 50% chance with each pregnancy that the offspring will be affected. Homozygous achondroplasia, a severe and lethal form, occurs as a result of a union between two ...
by Harini Narayan
Maternal Skeletal Disorders INFORMATION FOR PATIENTS Achondroplasia and pregnancy Achondroplasia is the most...
Achondroplasia is a genetic condition that affects all ethnic groups and both sexes equally; it occurs in 1 in 15,000 to 1 ...
Rehabilitation Medicine Quick Reference by Andre Panagos, MD
Description Achondroplasia is the most common form of dwarfism, resulting in a characteristically large head with frontal bossing and a long narrow trunk with short limbs. Etiology/Types Autosomal-dominant inheritance n Fibroblast growth ...
by Maureen R. Nelson, MD
Panagos MD Description Achondroplasia is the most common form of dwarfism, resulting in a characteristically large head with frontal bossing and a long narrow trunk with short limbs. Etiology/Types Autosomal dominant inheritance ...
Rubin's Pathology (2011)
Clinicopathologic Foundations of Medicine by Raphael Rubin, David S. Strayer, Emanuel Rubin
Achondroplasia Is an Inherited Dwarfism Caused by Arrest of the Growth Plate Achondroplasia refers to a syndr ome of short-limbed dwarfism and macrocephaly and represents a failure of normal epiphyseal cartilage formation. It is the most ...
Board Buster Step 1 (2007)
by Stanley Zaslau
Achondroplasia is an autosomal dominant cell-signaling defect of the fibroblast growth factor receptor 3. It results in dwarfism. Osteitis fibrosa cystica is a result of renally induced hypercalciuria. Achondroplasia is an autosomal dominant ...
by Joseph P. Winnick
Achondroplasia is the most common type of disproportionate dwarfism. According to the LPA (2008),
Diseases of the Fetus and Infant by Richard J. Martin, Avroy A. Fanaroff, Michele C. Walsh
Achondroplasia is the most common nonlethal skeletal dysplasia. Shortening of the femur, frontal bossing, and increased amniotic fluid volume characterize this autosomal dominant rhizomelic disorder, rarely ...
by Marci M. Lesperance, Paul W. Flint
Achondroplasia is an autosomal dominant disorder resulting from mutations in the fibroblast growth factor receptor-3 gene FGFR3, with most cases representing a new mutation.210,211 The exact mechanisms underlying the phenotype are ...
Medical Record (1921)
by George Frederick Shrady, Thomas Lathrop Stedman
Achondroplasia is a congenital affection undergoing its evolution during intrauterine life and has become cured at the ...
by Benjamin A. Pierce
Achondroplasia is an autosomal dominant disorder A family of three who have characterized by disproportionate short stature: the legs and arms are short compared with the head and trunk. The disorder is due to a base substitution in the ...
Fetal and Neonatal Pathology (2013)
by Jean W. Keeling
Achondroplasia is the most common skeletal dysplasia in humans and is unusual in that nearly all cases are due to an identical point mutation in the fibroblast growth factor receptor type 3 (FGFR3) locus on chromosome 4p. Thanatophoric ...
by Jonathan Slack
Achondroplasia is a developmental abnormality arising from a mutation in the gene for a particular growth factor receptor known as fibroblast growth factor receptor 3 (FGFR3). The substances called fibroblast growth factors (FGFs) are very ...
Pirrung: Achondroplasia is a disease ordinarily which runs its full course very early in fetal life, probably during the time when the primitive connective tissues are being laid down. Answering Dr. Souther: We did not make a Wassermann ...
by Peter C. Gay
Achondroplasia is an autosomal-dominant condition caused by a mutation in the gene encoding fibroblast growth factor receptor type 3 and affects longitudinal growth and craniofacial, vertebral, and neurologic development.
by Michael F Greene, Robert K. Creasy, Robert Resnik, Jay D. Iams, Charles J. Lockwood, Thomas Moore
Heterozygous achondroplasia is a short-limb dystrophy characterized by proximal long-bone shortening (rhizomelic dwarfism), bowing of the limbs ( especially the lower limbs), a large skull, and depression of the nasal bridge. The condition is ...
by Girish Fatterpekar, Thomas P. Naidich, Peter M. Som
Definition/Background Achondroplasia is the most common ( nonlethal) skeletal dysplasia, which predominantly involves the spine and extremities. It is classified as rhizomelic dwarfism since the proximal segments of limbs are ...
The Noonday Demon (2011)
An Atlas Of Depression by Andrew Solomon
Achondroplasia is the most common form of dwarfism, and mice with the gene who have been given BMN-111 grow to full size. Testing in humans has already begun. Blood tests now in development would pick up Down syndrome earlier in ...
Pediatric Hydrocephalus (2012)
by Giuseppe Cinalli, W.J. Maixner, C. Sainte-Rose
Achondroplasia is the most common cause of shortlimbed dwarfism and is an autosomal dominant disorder (see Table 4). The incidence is about 1 in 15 000 births . Most cases are sporadic and are caused by new mutations. Penetrance ...
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Scrabble value of A1C3H4O1N1D2R1O1P3L1A1S1I1A1
The value of this 14-letter word is 22 points, but it's not an accepted word in the Official Scrabble Players Dictionary.
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