The other disorder Tyler told me to look into was enchondrodysplasia. However, the problem with the pathology is that a quick google search on the term “enchondrodysplasia” gets very little in resuults but the search engine give a lot of results for chondrodysplasia. In Response to what google is giving, I wanted to do an analysis of what is the effect and cause of chondrodysplasia in people who carry the disorder ,and how it is related to human growth and height.
From the Medical Dictionary Site located HERE.
Definition: an inherited disease characterized by abnormal growth at the ends of bones, particularly the long bones of the arms and legs. Bones of the hands and feet may be similarly affected.
chondrodysplasia puncta´ta a heterogeneous group of hereditary bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy.
chondrodysplasia puncta´ta a heterogeneous group of bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi-Hünermann syndrome), and a milder X-linked form.
Pediatric orthopedics A defect in development of cartilage especially of long bones, resulting in arrested growth and dwarfism
From resource 2
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
Me: What the literature and the links I have found point to is that chondrodysplasia is more often associated with animals like cows and dogs, than just humans. The cause is genetic with the fact that both parents need to have the carrier non-dominant allele for the animal to develop the disorder. However, the non-dominant allele seems to have some form of effect on the dominant allele so even carriers that don’t show the phenotypical aspects that prominently will have some form of manifestation. The disorder is characterized mainly by the fact that the epiphysis of the long bones go through some weird growth pattern which affects the epiphyseal plates to calcify too quickly. For some typeo sf chondrodysplasia only the long bones like the humerus and femur is affected. That means that people affected by it will be of short stature and can even be below the dwarf medical definition, but they are not dwarves because of the disproportions of the limbs.
From the US National Library of Medicine National Institute of Health website link HERE , the article abstract is posted.
J Pediatr. 1996 May;128(5 Pt 2):S14-7.
Response to growth hormone in children with chondrodysplasia.
Department of Pediatrics, Medical University of South Carolina, Charleston 29425, USA.
Theoretic concerns exist that children with chondrodysplasia will not grow in response to growth hormone (GH) therapy because of an inability of the abnormal growth cartilage to respond. Experience to date, however, suggests that there is an increase in growth velocity, especially during the first year of treatment, which may be beneficial. Growth has increased during the early phases of GH therapy in both patients with achondroplasia and patients with hypochondroplasia. Fourteen patients with achondroplasia in the National Cooperative Growth Study have been treated with an average dose of GH of 0.317 mg/kg per week for an average of 2.6 years and have gained an average of 0.7 SD in height. Twenty patients with hypochondroplasia in the National Cooperative Growth Study have been treated with an average dose of GH of 0.317 mg/kg per week for an average of 2.6 years and have gained an average of 0.7 SD in height. These data suggest that the abnormal growth cartilage in patients with chondrodysplasia responds to GH therapy. The effect on final height cannot be predicted with the currently available data.