Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
skeletal system
craniofacial system dental system |
| gptkbp:characterizedBy |
gptkb:bone
short stature dental anomalies joint laxity craniofacial abnormalities acroosteolysis |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing radiographic imaging |
| gptkbp:firstDescribed |
1948
Nicholas Hajdu William Chenery |
| gptkbp:hasOrphanetID |
ORPHA:199
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hajdu-Cheney syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D006191
|
| gptkbp:mutationAssociatedWith |
gptkb:NOTCH2_gene
|
| gptkbp:OMIM |
102500
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
hydrocephalus
short neck hearing loss recurrent infections developmental delay cardiac anomalies micrognathia frontal bossing basilar invagination broad and short fingers broad great toes delayed closure of cranial sutures dental malocclusion hypermobile joints kyphoscoliosis premature loss of teeth progressive bone loss urinary tract anomalies wormian bones |
| gptkbp:treatment |
gptkb:bisphosphonates
dental care symptomatic management orthopedic intervention |
| gptkbp:bfsParent |
gptkb:human_NOTCH2_gene
|
| gptkbp:bfsLayer |
7
|