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A disorder involving nail dysplasia and bone
abnormalities.
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Anonychia-Onychodystrophy with Hypoplasia/Absence of
Distal Phalanges.
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Extremely rare disorder
described in a total of 11 members from only two families. Autosomal
dominant inheritance.
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The diagnosis is made based on family history and
the characteristic clinical features of hand and nails, which include
onychodystrophy that can progress to complete loss of nails, digitalization
of the thumbs, fifth finger brachydactyly, and absent or hypoplastic distal
phalanges of hands and feet.
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Because the findings are limited to the
hands, no specific anesthetic concerns are expected to arise from this
disorder.
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Coffin-Siris Syndrome: A congenital syndrome with growth and
mental retardation, coarse facies, nail dysplasia and skeletal anomalies.
Cooks RG, Hertz M, Katznelson MB, et al: A new nail dysplasia syndrome
with onychonychia and absence and /or hypoplasia of distal phalanges.
Clin Genet
27:85, 1985.
[PubMed: 3978841]
Nevin NC, Thomas PS, Eedy DJ, et al: Anonychia and absence/ hypoplasia of
distal phalanges (Cooks syndrome): Report of a second family.
J Med Genet 32:638,
1995.
[PubMed: 7473658]