Medicine:Zori–Stalker–Williams syndrome

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Short description: Genetic disease
Zori–Stalker–Williams syndrome
Other namesPectus excavatum, macrocephaly, short stature and dysplastic nail
Autosomal dominant - en.svg
Zori–Stalker–Williams syndrome has an autosomal dominant pattern of inheritance.

Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails,[1] is a rare autosomal dominant[2] congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic nails, familial short stature, developmental delay and distinctive facies.[3][4] Further signs are known to be associated with this syndrome.[5]

The name originates from the researchers who first defined and noticed the syndrome and its clinical signs.[1]

It is believed that the syndrome is inherited in an autosomal dominant pattern, though there has been no new research undertaken for this rare disease.[1]

References

  1. 1.0 1.1 1.2 Online Mendelian Inheritance in Man (OMIM) Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails -600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
  2. "A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails". Dysmorphology and Clinical Genetics 6: 116–122. 1992. 
  3. Zori Stalker Williams syndrome at NIH's Office of Rare Diseases
  4. "Pectus excavatum macrocephaly dysplastic nails". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2572. 
  5. ORPHANET – About rare diseases – About orphan drugs[yes|permanent dead link|dead link}}]

External links

Classification
External resources