Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.
About 70 percent of all cases of hypochondroplasia are caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, researchers believe that these genetic changes cause the protein to be overly active. The overactive FGFR3 protein likely interferes with skeletal development and leads to the disturbances in bone growth that are characteristic of this disorder.
The incidence of hypochondroplasia is unknown. Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns. More than 200 people worldwide have been diagnosed with hypochondroplasia.
Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with hypochondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with hypochondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have more severe problems with bone growth than those who inherit a single FGFR3 mutation.
Laurence Mallet-Legeai practices in Paris, France. Mallet-Legeai is rated as an Elite expert by MediFind in the treatment of Hypochondroplasia. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Hypochondroplasia, Achondroplasia, Thanatophoric Dysplasia, and Acanthosis Nigricans.
Arnold Munnich practices in Paris, France. Munnich is rated as an Elite expert by MediFind in the treatment of Hypochondroplasia. He is also highly rated in 113 other conditions, according to our data. His top areas of expertise are Short Stature (Growth Disorders), Polydactyly, Acromesomelic Dysplasia Campailla Martinelli Type, Acromesomelic Dysplasia, and Heart Transplant.
Nabil Kaci practices in Paris, France. Kaci is rated as an Elite expert by MediFind in the treatment of Hypochondroplasia. He is also highly rated in 16 other conditions, according to our data. His top areas of expertise are Achondroplasia, Type A Insulin Resistance Syndrome, Acanthosis Nigricans, and Hypochondroplasia.
Summary: This registry is a observational, single-center study designed to collect clinical data on patients with achondroplasia and hypochondroplasia.
Published Date: October 01, 2012Published By: National Institutes of Health