Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata (pronounced rhi-zo-mel-ic kon-dro-dis-pla-sia punk-ta-ta) is a rare genetic disorder characterized by skeletal abnormalities, distinctive facial features, and intellectual disability.
Etymology
The term "rhizomelic" is derived from the Greek words "rhizo" meaning root and "melos" meaning limb, referring to the proximal (near the center of the body) limb shortening that is characteristic of this disorder. "Chondrodysplasia" comes from the Greek words "chondros" meaning cartilage and "dysplasia" meaning abnormal growth or development. "Punctata" is Latin for "spotted" or "dotted," referring to the stippled (spotted or speckled) appearance of the cartilage seen in this disorder.
Symptoms
The most common symptoms of Rhizomelic chondrodysplasia punctata include shortening of the upper arms and thighs (rhizomelia), punctate calcifications (spots of calcium) in cartilage, particularly in the knees, ankles, and elbows, and distinctive facial features such as a high forehead, underdeveloped midface, and a small nose. Intellectual disability is also common.
Causes
Rhizomelic chondrodysplasia punctata is caused by mutations in one of several genes, including the PEX7, GNPAT, and AGPS genes. These genes are involved in the breakdown of certain fats in the body, and mutations in these genes disrupt this process, leading to the accumulation of these fats and causing the signs and symptoms of this disorder.
Diagnosis
Diagnosis of Rhizomelic chondrodysplasia punctata is based on clinical examination, radiographic findings, and confirmed by genetic testing.
Treatment
There is currently no cure for Rhizomelic chondrodysplasia punctata. Treatment is supportive and based on the signs and symptoms present in each individual.
Related Terms
- Rhizomelia - Shortening of the proximal parts of the limbs.
- Chondrodysplasia - A group of disorders characterized by the abnormal development of cartilage and bone.
- Punctate calcifications - Small spots of calcium deposits.
External links
- Medical encyclopedia article on Rhizomelic chondrodysplasia punctata
- Wikipedia's article - Rhizomelic chondrodysplasia punctata
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