Definitions for achondroplasia
eɪˌkɒn drəˈpleɪ ʒə, -ʒi əachon·dropla·si·a

Princeton's WordNetRate this definition:0.0 / 0 votes

1. achondroplasia, achondroplasty, osteosclerosis congenita, chondrodystrophynoun

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

WiktionaryRate this definition:0.0 / 0 votes

1. achondroplasianoun

   A genetic disorder, the most common form of short limb dwarfism.

2. Etymology: (from "cartilage")

WikipediaRate this definition:0.0 / 0 votes

1. Achondroplasia

   Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of 131 centimetres (4 ft 4 in) for males and 123 centimetres (4 ft) for females. Other features can include an enlarged head and prominent forehead. Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that results in its protein being overactive. Achondroplasia results in impaired endochondral bone growth (bone growth within cartilage). The disorder has an autosomal dominant mode of inheritance, meaning only one mutated copy of the gene is required for the condition to occur. About 80% of cases occur in children of parents of average stature and result from a new mutation, which most commonly originates as a spontaneous change during spermatogenesis. The rest are inherited from a parent with the condition. The risk of a new mutation increases with the age of the father. In families with two affected parents, children who inherit both affected genes typically die before birth or in early infancy from breathing difficulties. The condition is generally diagnosed based on the clinical features but may be confirmed by genetic testing.Treatments may include support groups and growth hormone therapy. Efforts to treat or prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections or spinal stenosis may be required. Achondroplasia is the most common cause of dwarfism and affects about 1 in 27,500 people.

WikidataRate this definition:0.0 / 0 votes

1. Achondroplasia

   Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 75% of cases or may be inherited as an autosomal dominant genetic disorder. People with achondroplasia have short stature, with an average adult height of 131 centimeters for males and 123 centimeters for females. Achondroplastic adults are known to be as short as 62.8 cm [2 ft 0.7 in]. The disorder itself is caused by a change in the DNA for fibroblast growth factor receptor 3, which causes an abnormality of cartilage formation. If both parents of a child have achondroplasia, and both parents pass on the mutant gene, then it is very unlikely that the homozygous child will live past a few months of its life. The prevalence is approximately 1 in 25,000.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Achondroplasia

   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)

How to pronounce achondroplasia?

1. Alex

   US English

   David

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   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

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   Oliver

   British

   Wendy

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   Fred

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   Tessa

   South African

How to say achondroplasia in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of achondroplasia in Chaldean Numerology is: 6

2. Pythagorean Numerology

   The numerical value of achondroplasia in Pythagorean Numerology is: 1

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References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=achondroplasia
2. ^ Wiktionary
   https://en.wiktionary.org/wiki/Achondroplasia
3. ^ Wikipedia
   https://en.wikipedia.org/wiki/Achondroplasia
4. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=achondroplasia