Saldino Noonan Syndrome, also known as Short Rib Polydactyly Syndrome type II (SRPS II), is a rare genetic disorder characterized by a distinctive set of physical abnormalities affecting multiple organ systems.
This syndrome affects the development of several structures in the body, including the long bones, ribs, heart, kidneys, urinary tract, and eyes. Individuals with Saldino Noonan Syndrome usually have short and curved ribs, giving rise to a narrow thorax. Other common features include polydactyly (extra fingers or toes), short limbs, and abnormal development of the kidneys, leading to renal dysfunction.
In addition to these physical characteristics, individuals with this syndrome may also exhibit heart defects, such as atrial septal defects or ventricular septal defects, that affect the normal functioning of the heart. Eye abnormalities, including cataracts or glaucoma, are also commonly observed in individuals with Saldino Noonan Syndrome.
The condition is caused by mutations in genes involved in the functioning of cilia, which are small hair-like structures found on the surface of cells. Cilia play a crucial role in cell signaling, development, and maintaining the overall health of various tissues and organs. Defects in ciliary function lead to the wide range of developmental abnormalities seen in Saldino Noonan Syndrome.
Saldino Noonan Syndrome follows an autosomal recessive inheritance pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Diagnosis of the syndrome is typically done through genetic testing and evaluation of the distinctive physical features. Management of the condition often involves supportive care and treating specific health issues associated with the syndrome.
Due to its rarity and complex nature, Saldino Noonan Syndrome requires a multidisciplinary approach
