Rachitis fetalis micromelica is a medical term used to describe a rare genetic disorder that affects bone development and growth in infants. It is also known as rhizomelic chondrodysplasia punctata type 1 (RCDP1).
The term "rachitis" refers to a condition characterized by softening and weakening of the bones due to a deficiency in vitamin D, calcium, or phosphate. "Fetalis" indicates that the condition is present in the fetus, meaning it is congenital and is observed at birth. "Micromelica" signifies that the affected individual has abnormally short limbs or extremities.
In individuals with rachitis fetalis micromelica, an enzyme called peroxisome biogenesis factor 7 (PEX7) is deficient or non-functional. This leads to impaired peroxisome function within the body's cells, which has a profound impact on bone growth and development. This condition affects the long bones of the arms and legs, resulting in skeletal abnormalities such as shortening of the limbs, curved bones, and joint contractures.
Infants with rachitis fetalis micromelica may also exhibit additional features including craniofacial abnormalities, intellectual disability, vision and hearing impairments, respiratory difficulties, and feeding problems. The severity of symptoms can vary among affected individuals.
Currently, there is no known cure for rachitis fetalis micromelica. Treatment primarily focuses on managing symptoms and providing supportive care to improve quality of life. This may involve physical therapy to address mobility issues, regular monitoring of bone health, and interventions to address complications such as respiratory or vision impairments.
