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Witkop tooth and nail syndrome
Other Resources UpToDate PubMed

Witkop tooth and nail syndrome

Contributors: Grace J. Young BA, Gloria J. Young BA, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Witkop tooth and nail syndrome is a rare autosomal dominant ectodermal dysplasia that affects teeth and nails. It is a result of the mutation of gene MSX1 on chromosome 4p16.1. The syndrome equally affects both males and females.

Primary teeth and nails may be absent beginning in infancy. Nails may also grow distinctively slowly until around age 2 or 3. However, the disorder is most often detected at approximately age 4 or 5.

Other typical dental manifestations include the absence of secondary teeth and malformation of both primary and secondary teeth. Nails are hypoplastic and may exhibit koilonychia and fragility. Toenails are typically affected with greater severity than fingernails, and nail manifestations improve with age.

Fine, brittle, slow-growing scalp hair may be present in some kindreds.

For more information on this diagnosis, see OMIM.

Codes

ICD10CM:
Q82.4 – Ectodermal dysplasia (anhidrotic)

SNOMEDCT:
239040001 – Ectodermal dysplasia with tooth-nail defects

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Fried syndrome – An autosomal recessive disorder. Primary teeth are affected but it is unknown if secondary teeth are as well. Usually, nails are not as affected as in Witkop tooth and nail syndrome. Thin hair and eyebrows are a more frequent feature, as is eversion of the lower lip.
  • Clouston syndrome
  • Congenital absence of teeth with taurodontia and sparse hair – An autosomal recessive disorder. Primary and/or secondary molars may be "prism"-shaped.
  • Deafness and onycho-osteodystrophy with mental retardation (DOOR) syndrome
  • Curry-Hall syndrome
  • Schöpf-Schulz-Passarge syndrome

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:07/14/2020
Last Updated:07/26/2020
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Witkop tooth and nail syndrome
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Witkop tooth and nail syndrome : All fingernails or distal fingers, All toenails or distal toes, Koilonychia, Misshapen teeth
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