Seaver Cassidy syndrome
| Seaver Cassidy syndrome | |
|---|---|
| Synonyms | Facial dysmorphism-shawl scrotum-joint laxity syndrome |
| Classification and external resources | |
| ICD-10 | none |
| ICD-9-CM | none |
| MeSH | C537529 |
| Orphanet | 1778 |
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
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
- ↑ "Seaver Cassidy syndrome". Check Orphan. Retrieved 2011-09-06.
- 1 2 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. PMID 1776627. doi:10.1002/ajmg.1320410404.
External links
- Seaver Cassidy syndrome at the Office of Rare Diseases
- Seaver Cassidy syndrome at RightDiagnosis
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