Seaver Cassidy syndrome

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Seaver Cassidy syndrome
Classification and external resources
ICD-10 none
ICD-9-CM none
MeSH C537529

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[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]

References[edit]

  1. ^ "Seaver Cassidy syndrome". Check Orphan. Retrieved 2011-09-06. 
  2. ^ 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]