ACHONDROPLASIA

Pronunciation (US):

(GB):

 Dictionary entry overview: What does achondroplasia mean? 

• ACHONDROPLASIA (noun)
  The noun ACHONDROPLASIA has 1 sense:

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

  Familiarity information: ACHONDROPLASIA used as a noun is very rare.

 Dictionary entry details 

• ACHONDROPLASIA (noun)

Sense 1

Meaning:

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

Classified under:

Nouns denoting stable states of affairs

Synonyms:

achondroplasia; achondroplasty; chondrodystrophy; osteosclerosis congenita

Hypernyms ("achondroplasia" is a kind of...):

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)

Derivation:

achondroplastic (of or relating to achondroplasia)

 Context examples 

Alterations in the gene resulting in defects cause, achondroplasia, crouzon syndrome, thanatophoric dysplasia, coronal synostosis, hypochondroplasia, bladder and cervix cancers.

(FGFR3 wt Allele, NCI Thesaurus)

FGFR3 defects cause achondroplasia, crouzon syndrome, thanatophoric dysplasia, coronal synostosis, hypochondroplasia, bladder and cervix cancers.

(Fibroblast Growth Factor Receptor 3, NCI Thesaurus)

Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people.

(Dwarfism, NIH)

More specifically, such compounds could be used for pharmaceutical purposes, acting directly on the skeleton among achondroplasia sufferers.

(Scientists identify bioactive compounds in cacao pods to develop drugs to combat skeletal disorders, University of Granada)

A single type, called achondroplasia, causes about 70 percent of all dwarfism.

(Dwarfism, NIH)

An international team of researchers, led by the University of Granada (UGR) in Spain, has successfully isolated a bioactive compound present in cocoa bean extract that has proven effective in combatting skeletal diseases such as achondroplasia.

(Scientists identify bioactive compounds in cacao pods to develop drugs to combat skeletal disorders, University of Granada)