Seaver–Cassidy syndrome is a very rare disorder characterized by certain facial, genital, and skeletal deformities, as well as an unusual susceptibility to bleeding.[1] Seaver Cassidy syndrome was first described in 1991 by Laurie Seaver and Suzanne Cassidy.[2]
| Seaver–Cassidy syndrome | |
|---|---|
| Other names | Facial dysmorphism-shawl scrotum-joint laxity syndrome |
Signs and symptoms
Signs of Seaver–Cassidy syndrome include several facial disorders, including hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, a broad nasal bridge, malar hypoplasia, a thin upper lip, a smooth philtrum, and low-set, prominent ears. Males with Seaver–Cassidy syndrome may also experience an underdeveloped shawl scrotum and cryptorchidism. Skeletal anomalies, such genu valgum, hyperextended joints, or cubitus valgus, may also be present.[2]
Diagnosis
Treatment
References
External links
- Seaver Cassidy syndrome at the Office of Rare Diseases