Noonan Syndrome

Overview

A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Noonan Syndrome

Topic type

Condition

Category

Dermatology

MeSH classification

C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690

Preparing for an appointment about Noonan Syndrome

If you are speaking with a healthcare professional about Noonan Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Noonan Syndrome

EuroCareFinder helps patients explore clinics and healthcare providers across Europe. Some topics link directly to services offered by clinics, while others may be connected through related specialties, treatments or procedures.

Related topics

Explore healthcare providers

Use EuroCareFinder to browse clinics by country, specialty and available services.