STAR syndrome
| STAR syndrome | |
|---|---|
| Other names | Syndactyly with renal and anogenital malformation |
| Diagram showing X-linked dominant inheritance scenarios for the mother being affected | |
| Specialty | Genetics |
| Symptoms | Syndactyly, telecanthus, anogenital malformations, renal malformations, and short stature |
| Usual onset | Birth |
| Diagnostic method | Clinical features and genetic testing |
| Differential diagnosis | VATER syndrome |
| Frequency | Fewer than 100 documented cases |
STAR syndrome is an extremely rare X-linked dominant syndrome that is caused by single FAM58A gene point mutations or deletions of FAM58A and its flanking genes.
STAR syndrome is distinguished by a variety of facial dysmorphisms and malformations outlined by its acronym, Syndactyly Telecanthus Anogenital malformations Renal malformations.