loading...| Preferred Name |
Weaver syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_3447 |
| alternative_term |
Camptodactyly-overgrowth-unusual facies syndrome |
| definition |
Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Not applicable Autosomal dominant |
| hasDbXref |
MeSH:C536687 OMIM:617561 OMIM:618786 UMLS:C0265210 ICD-10:Q87.3 OMIM:277590 ICD-11:LD2C |
| label |
Weaver syndrome |
| notation |
ORPHA:3447 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_498448 http://www.orpha.net/ORDO/Orphanet_611327 |
| prefixIRI |
ORDO:Orphanet_3447 |
| prefLabel |
Weaver syndrome |
| present_in |
Worldwide AND has_cases/families_value : 48.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_498448 http://www.orpha.net/ORDO/Orphanet_611327 |
| subClassOf |