NOONAN SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: MALE TURNER SYNDROME
TURNER PHENOTYPE WITH NORMAL KARYOTYPE PTERYGIUM COLLI SYNDROME, INCLUDED
FEMALE PSEUDO-TURNER SYNDROME
NOONAN SYNDROME
NS1
Number of Symptoms 57
OrphanetNr:
OMIM Id: 163950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000689) Dental malocclusion 114 / 7739
3
(HPO:0000465) Webbed neck 81 / 7739
4
(HPO:0000476) Cystic hygroma 22 / 7739
5
(HPO:0000316) Hypertelorism 644 / 7739
6
(HPO:0000218) High palate 356 / 7739
7
(HPO:0002162) Low posterior hairline 88 / 7739
8
(HPO:0000470) Short neck 345 / 7739
9
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
10
(HPO:0000347) Micrognathia 426 / 7739
11
(HPO:0000286) Epicanthus 371 / 7739
12
(HPO:0000545) Myopia 286 / 7739
13
(HPO:0000508) Ptosis 459 / 7739
14
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
15
(HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
16
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
17
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
18
(HPO:0001249) Intellectual disability 1089 / 7739
19
(HPO:0002751) Kyphoscoliosis 131 / 7739
20
(HPO:0000914) Shield chest 14 / 7739
21
(HPO:0000917) Superior pectus carinatum 11 / 7739
22
(HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
23
(HPO:0002967) Cubitus valgus 49 / 7739
24
(HPO:0004322) Short stature 1232 / 7739
25
(HPO:0001531) Failure to thrive in infancy 26 / 7739
26
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
27
(HPO:0001643) Patent ductus arteriosus 228 / 7739
28
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
29
(HPO:0001629) Ventricular septal defect 316 / 7739
30
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
31
(HPO:0001642) Pulmonic stenosis 89 / 7739
32
(HPO:0001680) Coarctation of aorta 57 / 7739
33
(HPO:0001631) Atria septal defect 274 / 7739
34
(HPO:0001892) Abnormal bleeding 85 / 7739
35
(HPO:0001873) Thrombocytopenia 224 / 7739
36
(HPO:0004859) Amegakaryocytic thrombocytopenia 3 / 7739
37
(HPO:0001004) Lymphedema 62 / 7739
38
(HPO:0100697) Neurofibrosarcoma 5 / 7739
39
(OMIM) Partial deficiency of factor XI (less common) 2 / 7739
40
(OMIM) Woolly-like hair 1 / 7739
41
(OMIM) Partial deficiency of factor XIII (less common) 2 / 7739
42
(OMIM) Articulation difficulties 1 / 7739
43
(OMIM) High peaks of upper lip vermilion border 2 / 7739
44
(MedDRA:10047715) Von Willebrand's disease 1 / 7739
45
(OMIM) Triangular face with age 2 / 7739
46
(OMIM) Deeply grooved philtrum 2 / 7739
47
(OMIM) Occasional hypogonadism 1 / 7739
48
(MedDRA:10058668) Clinodactyly 91 / 7739
49
(OMIM) Vertebral abnormalities 2 / 7739
50
(OMIM) Male infertility in individuals with bilateral cryptorchidism 1 / 7739
51
(OMIM) Partial deficiency of factor XII(C) 1 / 7739
52
(OMIM) Blunt fingertips 2 / 7739
53
(MedDRA:10072883) Brachydactyly 153 / 7739
54
(OMIM) Multiple giant cell granulomas (bones, joints, soft tissues) 2 / 7739
55
(OMIM) Polyarticular villonodular synovitis (knees, ankles, wrists, elbows (in some patients) 2 / 7739
56
(OMIM) Blue-green irides 1 / 7739
57
(OMIM) Specific growth curves are available 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, ...
Clinical Description OMIM The disorder now known as Noonan syndrome bears similarities to the disorder described by Turner (1938) and shown by Ford et al. (1959) to have its basis in a 45,X chromosomal aberration called Turner syndrome, Ullrich-Turner syndrome (Wiedemann ...
Molecular genetics OMIM In more than 50% of patients with Noonan syndrome, Tartaglia et al. (2001) identified mutations in the PTPN11 gene (see, e.g., 176876.0001-176876.0003). All the PTPN11 missense mutations were clustered in the interacting portions of the amino N-SH2 (Src ...
Population genetics OMIM Noonan syndrome has an estimated incidence of 1 in 1,000 to 2,500 live births (Tartaglia et al., 2001).
Diagnosis GeneReviews Diagnosis of Noonan syndrome (NS) is made clinically by observation of key features. Those cardinal features of NS are well delineated:...
Clinical Description GeneReviews Females and males are equally likely to have Noonan syndrome (NS)....
Genotype-Phenotype Correlations GeneReviews PTPN11. Analysis of a large cohort of individuals with Noonan syndrome (NS) [Tartaglia et al 2001, Tartaglia et al 2002] has suggested that PTPN11 mutations are more likely to be found when pulmonary stenosis is present, whereas hypertrophic cardiomyopathy is less prevalent among individuals with NS caused by PTPN11 abnormalities. ...
Differential Diagnosis GeneReviews Turner syndrome, found only in females, is differentiated from Noonan syndrome (NS) by demonstration of a sex chromosome abnormality on cytogenetic studies in individuals with Turner syndrome. The phenotype of Turner syndrome is actually quite different from that of NS, when one considers face, heart, development, and kidneys. In Turner syndrome, renal anomalies are more common, developmental delay is much less frequently found, and left-sided heart defects are the rule....
Management GeneReviews To establish the extent of disease in an individual diagnosed with Noonan syndrome (NS), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....