Statements (40)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
both males and females
|
| gptkbp:alsoKnownAs |
fetal face syndrome
|
| gptkbp:characterizedBy |
short stature
facial abnormalities vertebral segmentation defects mesomelic limb shortening genital hypoplasia |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1969
|
| gptkbp:frequency |
less than 1 in 500,000
|
| gptkbp:hasOrphanetID |
ORPHA:783
|
| https://www.w3.org/2000/01/rdf-schema#label |
Robinow syndrome
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:DVL1_gene
gptkb:DVL3_gene gptkb:WNT5A_gene ROR2 gene |
| gptkbp:namedAfter |
Meinhard Robinow
|
| gptkbp:OMIM |
268310
|
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hypertelorism
cleft lip cleft palate upturned nose short toes broad forehead short fingers spinal abnormalities gum hypertrophy |
| gptkbp:treatment |
supportive care
speech therapy dental care orthopedic intervention |
| gptkbp:bfsParent |
gptkb:DVL1
gptkb:brachydactyly |
| gptkbp:bfsLayer |
7
|