Shprintzen-Goldberg syndrome
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:nervous_system
cardiovascular system skeletal system craniofacial structures |
| gptkbp:causedBy |
mutation in SKI gene
|
| gptkbp:firstDescribed |
1982
Robert B. Goldberg Robert J. Shprintzen |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Shprintzen-Goldberg syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
182212
|
| gptkbp:symptom |
intellectual disability
skeletal abnormalities hypertelorism cleft palate marfanoid habitus craniosynostosis arachnodactyly cardiovascular abnormalities |
| gptkbp:synonym |
Marfanoid craniosynostosis syndrome
|
| gptkbp:treatment |
symptomatic management
cardiac monitoring surgical intervention for craniosynostosis |
| gptkbp:bfsParent |
gptkb:fibrillin-1_protein
gptkb:HGNC:4057 |
| gptkbp:bfsLayer |
8
|