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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.

Phrases with achondroplasia

  1. Saltipedis Achondroplasia
  2. Species Saltipedis Achondroplasia

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 (2014)

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 previewDiagnostic Imaging: Musculoskeletal Non-Traumatic Disease (2016)

by B. J. Manaster

Achondroplasia is the most common and well known. The reported frequency is less than 2/10,000 live births. Short limb dysplasias are divided along several different lines, the most important division being into lethal and nonlethal forms.

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)

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 previewAdapted Physical Education and Sport, 6E (2016)

by Winnick, Joseph, Porretta, David

Achondroplasia is the most common type of...

Achondroplasia means the absence of normal cartilage formation and growth, and it begins in utero. This type of dwarfism can manifest itself in a ...

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 previewThe Developing Human (2011)

by Keith L. Moore, T. V. N. Persaud, Mark G. Torchia

Achondroplasia is the most common cause of dwarfism— shortness of stature ( see Chapter...

Achondroplasia is an autosomal dominant disorder and approximately 80% of cases arise from new mutations; the rate increases with paternal age.

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 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 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 previewBiology Today and Tomorrow with Physiology (2016)

by CTI Reviews

Achondroplasia is a common cause of dwarfism.

Google previewObstetric & Gynaecological Ultrasound (2016)

How, Why and When by Trish Chudleigh, Alison Smith, Sonia Cumming

Achondroplasia is an autosomal dominant condition in which the limbs, and particularly the femur, are shortened and bowed. The bones of the hands and feet are short and the fingers are divergent, producing what is called a ...

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 E-Book (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 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 previewHuman Biology (2016)

Biology, Human biology by CTI Reviews

Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of cases (associated with advanced paternal age) or ...

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 ...

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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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