RCDP2

RCDP2, also known as Rhizomelic chondrodysplasia punctata type 2, is a rare genetic disorder that affects bone development and can lead to intellectual disability. It is characterized by short limbs, particularly the upper arms and thighs, and stippled calcifications in the cartilage near the ends of long bones, a condition known as chondrodysplasia punctata. Other common features include cataracts, characteristic facial features, and sometimes severe neurological impairments.

The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. RCDP2 is caused by mutations in the PEX7 gene, which is involved in peroxisome biogenesis. Peroxisomes are important organelles within cells that carry out various metabolic functions, including the breakdown of very long-chain fatty acids. Deficiencies in these functions due to PEX7 mutations lead to the accumulation of toxic substances and impair development.

Diagnosis is typically made based on clinical presentation and can be confirmed through genetic testing. There is no cure for RCDP2, and treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, and management of specific medical issues like cataracts or seizures. The severity of RCDP2 can vary significantly among affected individuals.