LEOPARD SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr:
OMIM Id: 613707
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

LEOPARD SYNDROME 3 is a sub-type of Noonan syndrome with multiple lentigines. For symptom annotation please refer to Noonan syndrome with multiple lentigines.

Symptom Information: Sort by abundance 

1
 (HPO:0000465) Webbed neck 81 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0005280) Depressed nasal bridge 381 / 7739
4
 (HPO:0000470) Short neck 345 / 7739
5
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
7
 (HPO:0000369) Low-set ears 372 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0100543) Cognitive impairment rare [HPO:skoehler] 230 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0000914) Shield chest 14 / 7739
12
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
13
 (HPO:0004322) Short stature 1232 / 7739
14
 (HPO:0001510) Growth delay 295 / 7739
15
 (HPO:0002212) Curly hair rare [HPO:skoehler] 21 / 7739
16
 (HPO:0007565) Multiple cafe-au-lait spots 11 / 7739
17
 (HPO:0001003) Multiple lentigines 11 / 7739
18
 (HPO:0001054) Numerous nevi 8 / 7739
19
 (HPO:0000962) Hyperkeratosis 216 / 7739
20
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
21
 (HPO:0001646) Abnormality of the aortic valve 55 / 7739
22
 (HPO:0001633) Abnormality of the mitral valve 69 / 7739
23
 (HPO:0001319) Neonatal hypotonia 101 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sarkozy et al. (2009) reported a patient with LEOPARD syndrome-3. The patient had poor growth, craniofacial anomalies, short and webbed neck, mitral and aortic valve dysplasia, cognitive deficits, neonatal hypotonia, sensorineural deafness, and seizures. Other features included thorax ...
Molecular genetics OMIM In 1 (17%) of 6 unrelated patients with a clinical diagnosis of LEOPARD syndrome, Sarkozy et al. (2009) identified a heterozygous de novo mutation in the BRAF gene (164757.0024). This same mutation had previously been identified by Schulz ...