NOONAN SYNDROME 8

General Information (adopted from Orphanet):

Synonyms, Signs: NS8
Number of Symptoms 23
OrphanetNr:
OMIM Id: 615355
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[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:0000494) Downslanted palpebral fissures 328 / 7739
3
(HPO:0004482) Relative macrocephaly 44 / 7739
4
(HPO:0000286) Epicanthus 371 / 7739
5
(HPO:0000465) Webbed neck 81 / 7739
6
(HPO:0000316) Hypertelorism 644 / 7739
7
(HPO:0000470) Short neck 345 / 7739
8
(HPO:0000508) Ptosis 459 / 7739
9
(HPO:0000369) Low-set ears 372 / 7739
10
(HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
11
(HPO:0001561) Polyhydramnios 191 / 7739
12
(HPO:0004322) Short stature 1232 / 7739
13
(HPO:0001508) Failure to thrive 454 / 7739
14
(HPO:0000974) Hyperextensible skin 59 / 7739
15
(HPO:0002212) Curly hair 21 / 7739
16
(HPO:0000962) Hyperkeratosis 216 / 7739
17
(HPO:0001629) Ventricular septal defect 316 / 7739
18
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
19
(HPO:0001631) Atria septal defect 274 / 7739
20
(HPO:0001642) Pulmonic stenosis 89 / 7739
21
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
(OMIM) Valvular insufficiency 2 / 7739
23
(OMIM) Fetal pleural effusion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013). ...
Clinical Description OMIM Aoki et al. (2013) reported 17 unrelated individuals with Noonan syndrome-8 ranging in age from a few months to 15 years. Patients had a distinctive facial appearance with relative macrocephaly, hypertelorism, downslanting palpebral fissures, ptosis, epicanthal folds, and ...
Molecular genetics OMIM In 17 (9%) of 180 unrelated patients suspected of having Noonan syndrome but without mutation in any known Noonan syndrome-causing genes, Aoki et al. (2013) identified heterozygous mutations in the RIT1 gene (see, e.g., 609591.0001-609591.0004). The first mutations ...