SNP Shot: Genomic Insights

RAPADILINO syndrome is an uncommon disorder impacting numerous body systems. It significantly affects bone growth, leading to many of its distinctive characteristics.

A common feature is the incomplete development or absence of forearm bones and thumbs, referred to as radial ray malformations. The kneecaps (patellae) may also be underdeveloped or missing. Additional features can include a cleft palate or high-arched palate, a long and thin nose, and joint dislocations.

Many babies with RAPADILINO syndrome struggle with feeding, often experiencing diarrhea and vomiting. This, combined with impaired bone development, results in delayed growth and short stature.

Some individuals with RAPADILINO syndrome may have benign light brown skin patches resembling café-au-lait spots. Furthermore, individuals with this syndrome have a slightly elevated risk of developing osteosarcoma, a type of bone cancer, or lymphoma, a cancer affecting the blood. In those with RAPADILINO syndrome, osteosarcoma usually appears during childhood or adolescence, while lymphoma generally develops in early adulthood.

The name RAPADILINO is an abbreviation derived from its key features: RA (radial ray malformations), PA (patella and palate abnormalities), DI (diarrhea and dislocated joints), LI (limb abnormalities and small size), and NO (slender nose and normal intelligence).

The diverse symptoms of RAPADILINO syndrome share similarities with other conditions, specifically Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes also involve radial ray defects, skeletal abnormalities, and growth delays. Mutations in the same gene can cause all these conditions. Due to these resemblances, researchers are exploring whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are distinct disorders or varying manifestations of a single syndrome with overlapping symptoms.

Inheritance:

The inheritance pattern is autosomal recessive, meaning that both copies of the responsible gene in each cell must carry mutations for the condition to manifest. Individuals with an autosomal recessive disorder inherit one mutated copy of the gene from each parent, who are typically carriers and do not exhibit symptoms themselves.