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Limb-mammary syndrome in Child
Other Resources UpToDate PubMed

Limb-mammary syndrome in Child

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


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

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.

LMS is an extremely rare autosomal dominant congenital disorder with fewer than 50 reported cases. The genetic defect has been localized to a 3-cM interval of chromosome 3q27.

LMS is an ectodermal dysplasia characterized by hand and foot anomalies (deficiencies, duplications, and fusion and separation defects), as well as hypoplasia or aplasia of the breast and nipple. Additional findings, although less frequent, include hypohidrosis, hypodontia, cleft palate with or without bifid uvula, and atresia of the lacrimal duct. Life expectancy is normal.


Q82.4 – Ectodermal dysplasia (anhidrotic)

721972001 – Limb mammary syndrome

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Differential Diagnosis & Pitfalls

  • Ulnar-mammary syndrome, another autosomal dominant condition – presents as ulnar ray defects, Polydactyly of hand, anal atresia, genitourinary abnormalities, hypohidrosis, and breast hypoplasia.
  • Ankyloblepharon-ectodermal dysplasia-cleft lip and palate syndrome
  • Ectrodactyly-ectodermal dysplasia-clefting syndrome
  • Acro-dermato-ungual-lacrimal-tooth syndrome
  • Split-hand-foot malformation 4
  • Orofacial cleft 8 syndrome
  • Focal dermal hypoplasia
  • Terminal osseous dysplasia with pigmentary defects (TODPD)
  • Odontotrichomelic syndrome

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Last Reviewed:07/13/2020
Last Updated:11/09/2023
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Limb-mammary syndrome in Child
A medical illustration showing key findings of Limb-mammary syndrome
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