Meaning of achondroplasia in English:

achondroplasia

Pronunciation /əˌkɒndrə(ʊ)ˈpleɪzɪə/ /eɪˌkɒndrə(ʊ)ˈpleɪzɪə/

noun

mass noun
  • A hereditary condition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face which is small in relation to the skull.

    ‘This phenomenon has been described in osteogenesis imperfecta, achondroplasia and Duchenne muscular dystrophy.’
    • ‘Since achondroplasia affects mainly cartilaginous bones (arms and legs), the sitting height is normal while the standing height is short.’
    • ‘The 10-year-old is a huge sports fan and passionate Manchester City supporter but has been unable to compete in out-of-school contests in the past because of hereditary growth disorder achondroplasia.’
    • ‘Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.’
    • ‘The most common form of dwarfism is achondroplasia.’
    • ‘Examples of autosomal dominant single gene disorders include: Marfan syndrome, achondroplasia, neurofibromatosis, and retinitis pigmentosa.’
    • ‘My son has a condition called achondroplasia, which is a form of dwarfism that affects the long bones of the body (arms and legs).’
    • ‘Still others, such as achondroplasia (the most common form of dwarfism), may either be inherited or the result of a genetic mutation.’
    • ‘Mrs Rossi is so tiny because was born with achondroplasia, a genetic condition.’
    • ‘The diagnosis of achondroplasia, for instance, rests solely on the clinical examination that may include anthropometric measurements and x-rays.’
    • ‘It is more common in people who have Down syndrome, achondroplasia, Hunter syndrome, Hurler syndrome, Sanfilippo syndrome, spina bifida, and Arnold-Chiari malformation.’
    • ‘Hypochondroplasia is a similar condition, often diagnosed as the child develops, but the inherent abnormalities are less apparent than with achondroplasia.’
    • ‘Not as well known is the fact that certain rare disorders, such as achondroplasia, are more common among births to older fathers.’
    • ‘Sean also has achondroplasia, the medical term for restricted growth.’
    • ‘Greg, 29, of Bingley, has achondroplasia which causes severe shortening of the limbs.’
    • ‘One of them, a little girl, had achondroplasia, a genetic disability in which, among other things, arms and legs do not grow to the same scale as the head and torso, so the person ends up very short.’

Origin

Late 19th century from a-‘without’ + Greek khondros ‘cartilage’ + plasis ‘moulding’ + -ia.