Definition of achondroplasia in English:

achondroplasia

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.

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

Origin

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

Pronunciation:

achondroplasia

/əˌkɒndrə(ʊ)ˈpleɪzɪə/