Achondroplasia


Also found in: Dictionary, Thesaurus, Medical, Acronyms, Wikipedia.

achondroplasia

[¦ā‚kän·drə′plāzh·ē·ə]
(medicine)
A hereditary deforming disease of the skeletal system, inherited in humans as an autosomal dominant trait and characterized by insufficient growth of the long bones, resulting in reduced length. Also known as chondrodystrophy fetalis.

Achondroplasia

 

or chondrodystrophy, a congenital disease that begins prenatally and is manifested by impaired growth of the extremities in length. The infant is born with short arms and legs, which later lag considerably in growth or do not grow at all while the trunk, neck, and head grow normally. Achondroplasia is often associated with other developmental anomalies and mental retardation. The basis of the disease is derangement of the process of ossification at the boundary between the epiphysis and diaphysis. The causes of achondroplasia are unknown.

REFERENCE

Rusakov, A. V. “Vrozhdennaia disgarmoniia rosta periostal’noi i enkhondral’noi kostnoi tkani.” In Mnogotomnoe rukovodstvo po patologicheskoi anatomii, vol. 5. Edited by A. I. Strukov. Moscow, 1959. (Contains a bibliography.)
References in periodicals archive ?
Hand and finger changes are seen as trident fingers (6) in Achondroplasia but polydactyly and syndactyly in EVC syndrome.
Neither Alastair nor Claire has a family history of achondroplasia. It's just a chance mutation, a chromosomal abnormality, and experts reckon it affects about one in 40,000.
There are no treatments able to reverse achondroplasia or treat the genetic culprit itself.
(16) Because deafness and achondroplasia are, by a large margin, the disabilities most commonly at issue in real-world cases of selection for disability, I will focus on them here.
Ellie, 21, who was born with a type of dwarfism called achondroplasia, says: "I've never seen myself as having a disability, I'm a normal person - just a bit smaller than everyone else.
Freya Tyndall, 13, from Linthwaite, has achondroplasia, which makes it difficult for her to move around and interact with friends.
Hamish has achondroplasia, commonly called dwarfism.
INTRODUCTION: Achondroplasia is the most frequent of more than 100 described types of skeletal dysplasia, which lead to dwarfism.
--ism called achondroplasia which means her limbs are out of proportion with the rest of her body, was overjoyed to meet gymnastic idol Louis Smith at the recent And the 11-year-old, of Haverfordwest, who was born with a form of dwarf-west, dwarf ism called achondroplasia which means her limbs are out of proportion with the rest of her body, was overjoyed to meet gymnastic idol Louis Smith at the recent live Tumble final.
The brainchild of Zahra Khumri, a computer engineer suffering from achondroplasia, one of the commonest forms of dwarfism, the group has people from different emirates, different age groups and professions.
For Tina, born with achondroplasia (dwarfism), her goal is to sign up for an experimental procedure that will make her taller.