Noonan syndrome 12
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Amy E Roberts
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (5 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
- Abnormality of limbs
- Proximal placement of thumb
Proximal placement of thumb
- MedGen UID: 356033
- Concept ID: C1865572
- Finding: Finding
Abnormality of limbs
- Proximal placement of thumb
- Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Polyhydramnios
- Abnormality of the cardiovascular system
- Supravalvar aortic stenosis
Supravalvar aortic stenosis
- MedGen UID: 2001
- Concept ID: C0003499
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Tetralogy of Fallot
Tetralogy of Fallot
- MedGen UID: 21498
- Concept ID: C0039685
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Supravalvar aortic stenosis
- Abnormality of the digestive system
- Anteriorly placed anus
Anteriorly placed anus
- MedGen UID: 333160
- Concept ID: C1838705
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Anteriorly placed anus
- Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
Decreased response to growth hormone stimulation test
- MedGen UID: 1784655
- Concept ID: C5539399
- Finding: Finding
Abnormality of the endocrine system
- Decreased response to growth hormone stimulation test
- Abnormality of the eye
- Amblyopia
Amblyopia
- MedGen UID: 8009
- Concept ID: C0002418
- Finding: Disease or Syndrome
Abnormality of the eye
- Esotropia
Esotropia
- MedGen UID: 4550
- Concept ID: C0014877
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypermetropia
Hypermetropia
- MedGen UID: 43780
- Concept ID: C0020490
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Amblyopia
- Abnormality of the immune system
- Atopic eczema
Atopic eczema
- MedGen UID: 41502
- Concept ID: C0011615
- Finding: Disease or Syndrome
Abnormality of the immune system
- Lymphopenia
Lymphopenia
- MedGen UID: 7418
- Concept ID: C0024312
- Finding: Disease or Syndrome
Abnormality of the immune system
- Atopic eczema
- Abnormality of the musculoskeletal system
- 11 pairs of ribs
11 pairs of ribs
- MedGen UID: 326950
- Concept ID: C1839731
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Spinal canal stenosis
Spinal canal stenosis
- MedGen UID: 396107
- Concept ID: C1861329
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- 11 pairs of ribs
- Abnormality of the nervous system
- Chiari malformation
Chiari malformation
- MedGen UID: 2065
- Concept ID: C0003803
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Mild global developmental delay
Mild global developmental delay
- MedGen UID: 861405
- Concept ID: C4012968
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Chiari malformation
- Neoplasm
- Glabellar hemangioma
Glabellar hemangioma
- MedGen UID: 340224
- Concept ID: C1854408
- Finding: Neoplastic Process
Neoplasm
- Glabellar hemangioma
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