Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type is a rare genetic disorder characterized by severe shortening of the long bones in the arms and legs. The condition is also known as Grebe Chondrodysplasia.
Pronunciation
The term is pronounced as kon-dro-dis-PLAY-zhuh, Greeb type.
Etymology
The term Chondrodysplasia is derived from the Greek words "chondros" meaning cartilage, "dys" meaning bad or difficult, and "plasia" meaning formation. The term Grebe is named after the German pediatrician, Hans Grebe, who first described the condition in 1961.
Symptoms
Individuals with Chondrodysplasia, Grebe type typically have normal trunk length, but severely shortened arms and legs. Other features can include underdeveloped fingers and toes, joint deformities, and facial abnormalities such as a prominent forehead and a flat nasal bridge.
Causes
Chondrodysplasia, Grebe type is caused by mutations in the GDF5 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and cartilage.
Diagnosis
Diagnosis of Chondrodysplasia, Grebe type is based on physical examination and radiographic findings. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Chondrodysplasia, Grebe type. Treatment is symptomatic and supportive, and may include physical therapy, orthopedic devices, and surgery to improve mobility and function.
Related Terms
- Chondrodysplasia - A group of disorders characterized by the abnormal development of cartilage and bone.
- GDF5 - A gene that provides instructions for making a protein involved in the development and maintenance of bone and cartilage.
- Genetic disorder - A disease caused by changes in the DNA sequence.
External links
- Medical encyclopedia article on Chondrodysplasia, Grebe type
- Wikipedia's article - Chondrodysplasia, Grebe type
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