Achondroplasia


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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 ?
Hecht JT, Bodensteiner JB, Butler IJ; Neurologic manifestations of achondroplasia.
Health supervision for children with achondroplasia.
Among the nearly 20 representations of genetic disease and congenital malformations detected in the ceramic artifacts from the populations of the Tumaco-La Tolita culture (5-7), based on medical and iconographic evaluation, achondroplasia appears as a relatively frequent monogenic alteration (8, 9).
Specific health issues faced by individuals with achondroplasia
Atypical radiological findings in achondroplasia with uncommon mutations of the FGFR3 gene (Gly to Cys at codon 375).
By the time they started school, their achondroplasia was starting to show.
Key Words: lumbar puncture, dural puncture, achondroplasia, leukaemia, paediatric, magnetic resonance imaging, spinal stenosis
But some older fathers did have an increased risk of having children with achondroplasia, and according to the published results, "a small fraction of men are at increased risk for transmitting multiple genetic and chromosomal defects.
My son has a condition called achondroplasia, which is a form of dwarfism that affects the long bones of the body (arms and legs).
Lezcano's arms and legs are short and his forehead and nose are prominent features; those physical characteristics are those of achondroplasia which is also called short limb dwarfism.
The muscles of the lower leg were studied before, during, and after leg lengthening in 38 patients with achondroplasia and in 32 patients with congenital leg length discrepancy.
Because the skeletal manifestations of achondroplasia usually only become apparent on ultrasound between 18 and 22 weeks' gestation, in cases where one or both parents have genetic prevelance of the disorder, chorionic villous sampling may aid in the diagnosis during the first trimester.