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achondroplasia

Definition of the noun achondroplasia

What does achondroplasia mean as a name of something?

noun - plural: achondroplasias

  1. an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism

Alternative definition of the noun achondroplasia

noun

  1. [teratology] A genetic disorder, the most common form of short limb dwarfism.

Printed books with definitions for achondroplasia

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Google previewElsevier's Integrated Review Genetics (2011)

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 ...

Google previewNeurologic Aspects of Systemic Disease Part I (2014)

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 ...

Google previewCompendium for the Antenatal Care of High-Risk Pregnancies (2015)

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 ...

Google previewSpine (2009)

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 ...

Google previewPediatrics (2010)

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 ...

Google previewRubin'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 ...

Google previewBoard 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 ...

Google previewAdapted Physical Education and Sport (2011)

by Joseph P. Winnick

Achondroplasia is the most common type of disproportionate dwarfism. According to the LPA (2008),

Google previewFanaroff and Martin's Neonatal-Perinatal Medicine (2014)

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 ...

Google previewCummings Pediatric Otolaryngology (2014)

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 ...

Google previewMedical 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 ...

Google previewGenetics: A Conceptual Approach (2012)

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 ...

Google previewFetal 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 ...

Google previewGenes: A Very Short Introduction (2014)

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 ...

Google previewLancet-clinic (1915)

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 ...

Google previewCentral Sleep Apnea, An Issue of Sleep Medicine Clinics, (2014)

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.

Google previewCreasy and Resnik's Maternal-Fetal Medicine: Principles and Practice (2008)

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 ...

Google previewThe Teaching Files: Brain and Spine Imaging (2011)

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 ...

Google previewThe 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 ...

Google previewPediatric 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 [63]. 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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