Seaver–Cassidy syndrome explained

Synonyms:	Facial dysmorphism-shawl scrotum-joint laxity syndrome
Seaver–Cassidy 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

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]

External links

• Seaver Cassidy syndrome at the Office of Rare Diseases

Notes and References

1. Web site: Check Orphan. 2011-09-06. Seaver Cassidy syndrome. https://archive.today/20130414123322/http://www.checkorphan.org/disease/seaver-cassidy-syndrome. 2013-04-14. dead.
2. Seaver LH, Cassidy SB . 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 . December 1991 . 1776627 . 10.1002/ajmg.1320410404 .