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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
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]
Classification
External resources
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Zori–Stalker–Williams syndrome
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