Chondrodysplasia
Overview
Chondrodysplasia is a genetic deformation disorder which can result in crippling deformities. Often mislabeled as "dwarfism", this condition is actually presented as abnormally short and deformed limbs. In some dog breeds, such as dachshund and basset hound; these leg formations are "normal", and is controlled within the breed and an identical degree of impact.
Symptoms
* abnormal hair loss * cataract * cartilage abnormalities * curvature of the spine * facial abnormalities * ichthyosis (scaly skin) * mental retardation * microcephaly * short stature or dwarfism
Diagnosis
For parents who know that they are carriers of the X-linked type of chondrodysplasia punctata, there is a prenatal procedure and test called preimplantation genetic diagnosis (PGD). After in vitro fertilization (IVF), PGD can test for genetic abnormalities, as well as gender before an embryo is implanted.
Treatment
The treatment and management of chondrodysplasia punctata is primarily orthopedic and dermatologic. The characteristic stippling or dotted cartilage will disappear as the child ages; however, shortened arms and legs and curvature of the spine require orthopedic treatment. In some cases, surgery may be necessary to help patients whose legs are different lengths.