Medicine:Seaver Cassidy syndrome

From HandWiki
Seaver Cassidy syndrome
Other namesFacial 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

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

  1. "Seaver Cassidy syndrome". Check Orphan. http://www.checkorphan.org/disease/seaver-cassidy-syndrome. 
  2. 2.0 2.1 "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. doi:10.1002/ajmg.1320410404. PMID 1776627. 

External links

Classification
External resources