Seaver–Cassidy syndrome
| Seaver–Cassidy syndrome | |
|---|---|
| Other names | Facial dysmorphism-shawl scrotum-joint laxity syndrome |
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]
Signs and symptoms
[edit]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
[edit]![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (August 2017) |
Treatment
[edit] | This section is empty. You can help by adding to it. (August 2017) |
References
[edit]- ^ "Seaver Cassidy syndrome". Check Orphan. Archived from the original on 2013-04-14. Retrieved 2011-09-06.
- ^ a b Seaver LH, Cassidy SB (December 1991). "New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies". American Journal of Medical Genetics. 41 (4): 405–9. doi:10.1002/ajmg.1320410404. PMID 1776627.
External links
[edit]- Seaver Cassidy syndrome at the Office of Rare Diseases
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |