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Acro-dermato-ungual-lacrimal-tooth syndrome
Other Resources UpToDate PubMed

Acro-dermato-ungual-lacrimal-tooth syndrome

Contributors: Regina Parker, Susan Burgin MD
Other Resources UpToDate PubMed


There are 6 autosomal dominant p63-associated ectodermal dysplasia syndromes:
This summary focuses on ADULT syndrome.

All ectodermal dysplasias result from the abnormal development of structures derived from the outer embryonal layer such as the skin, hair, teeth, nails, and eccrine and sebaceous glands. While these 6 syndromes are classified as distinct entities, their overlapping phenotypes suggest that they may be part of a spectrum of related syndromes.

p63 is a transcription factor with homology to the tumor suppressor p53. Studies in mice have demonstrated that, unlike p53, p63 expression is localized to whiskers, oral mucosa, and distal limbs. Furthermore, mice lacking p63 are born with translucent skin and without appendages (whisker pads, teeth). It has been postulated that p63 plays an important role in epidermal stratification and the maintenance of epidermal stem cells.

While all 6 syndromes show abnormalities in p63, each syndrome tends to demonstrate mutations in specific domains. ADULT syndrome, EEC, OFC8, and SHFM4 are associated with missense mutations in the DNA binding domain. In contrast, mutations in the sterile alpha motif / transcription inhibitory domain (SAM / TID), which is downstream of the DNA binding domain, result in AEC syndrome phenotypes. Missense mutations in between the transactivation domain and DNA binding domain or truncation of the SAM / TID are typical of limb-mammary syndrome.

ADULT syndrome was first described in 1993 and has thus far been identified in fewer than 10 individuals. The clinical features of ADULT syndrome demonstrate variable expressivity and include ectrodactyly, syndactyly, excessive freckling, onychodysplasia, nasolacrimal duct atresia, dental abnormalities, hair findings, hypoplastic nipples and breasts, and exfoliative dermatitis of the digits.


Q87.2 – Congenital malformation syndromes predominantly involving limbs

720464003 – ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome

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Differential Diagnosis & Pitfalls

  • Ectrodactyly-ectodermal dysplasia-clefting syndrome – Distinguishing features include orofacial clefting, genitourinary tract abnormalities, and the absence of freckling or exfoliative dermatitis.
  • Ankyloblepharon-ectodermal dysplasia-cleft lip and palate syndrome – Distinguishing features include eyelid fusion and scalp erosions.
  • Limb-mammary syndrome – No skin or hair abnormalities; breast and nipple hypoplasia.
  • Split-hand-foot malformation 4 – Ectrodactyly exclusively.
  • Orofacial cleft 8 syndrome – Isolated cleft lip / palate.
  • Odontotrichomelic syndrome – Severe limb deformities.

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Last Reviewed:08/13/2020
Last Updated:11/09/2023
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Acro-dermato-ungual-lacrimal-tooth syndrome
A medical illustration showing key findings of Acro-dermato-ungual-lacrimal-tooth syndrome
Copyright © 2024 VisualDx®. All rights reserved.