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Zori–Stalker–Williams syndrome

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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. ^ a b c Online Mendelian Inheritance in Man (OMIM): Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails - 600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
  2. ^ Zori RT, Stalker HJ, Williams CA (1992). "A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails". Dysmorphology and Clinical Genetics. 6: 116–122.
  3. ^ Zori Stalker Williams syndrome at NIH's Office of Rare Diseases
  4. ^ "Pectus excavatum macrocephaly dysplastic nails". Orphanet.
  5. ^ ORPHANET – About rare diseases – About orphan drugs[permanent dead link]
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Zori–Stalker–Williams syndrome
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