Noonan Syndrome

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.

Also Known As:

Female Pseudo-Turner Syndrome; Male Turner Syndrome; Familial Turner Syndrome; Noonan Syndrome 1; Noonan-Ehmke Syndrome; Pseudo-Ullrich-Turner Syndrome; Turner Phenotype with Normal Karyotype; Turner's Phenotype, Karyotype Normal; Turner's Syndrome, Male; Turner-Like Syndrome; Ullrich-Noonan Syndrome; Female Pseudo Turner Syndrome; Male Turner's Syndrome; Noonan Ehmke Syndrome; Pseudo Ullrich Turner Syndrome; Pseudo-Turner Syndrome, Female; Turner Like Syndrome; Turner Syndrome, Familial; Ullrich Noonan Syndrome; Turner Syndrome, Male

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Noonan Syndrome: 419
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Noonan Syndrome: 419
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Noonan Syndrome: 419
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Noonan Syndrome: 419
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Noonan Syndrome: 419
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Noonan Syndrome: 419

Noonan Syndrome 2

Disease Context: Research Results