Noonan Syndrome Synonyms

Noonan Syndrome, also known as Turner-like syndrome or male Turner syndrome, is a genetic disorder that affects various parts of the body. It is named after Dr. Jacqueline Noonan, who first described the condition in 1963. This syndrome is characterized by distinctive facial features, short stature, heart defects, and developmental delays.

Individuals with Noonan Syndrome often have a webbed neck, low-set ears, and a small jaw. They may also have droopy eyelids, wide-spaced eyes, and deep-set eyes. Additionally, they may exhibit curved spine, short fingers, and enlarged liver or spleen.

One of the most significant features of Noonan Syndrome is short stature. Children with this condition tend to be shorter than their peers and may have a delayed growth spurt during puberty. However, their intelligence is typically normal, and many individuals with Noonan Syndrome lead fulfilling lives.

Heart defects are common in individuals with Noonan Syndrome, with up to 80% of affected individuals having some form of cardiac abnormality. These can include pulmonary valve stenosis, hypertrophic cardiomyopathy, or atrial septal defects.

Noonan Syndrome is caused by mutations in various genes, including PTPN11, SOS1, and KRAS. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their children.

Early diagnosis and management of Noonan Syndrome are crucial for optimal outcomes. Treatment may involve addressing the specific symptoms and complications associated with the condition. Regular medical follow-ups, growth hormone therapy, and surgical interventions for heart defects may be necessary.