Limb-mammary syndrome in Adult
- Ankyloblepharon-ectodermal dysplasia-cleft lip / palate (AEC) syndrome
- Ectrodactyly-ectodermal dysplasia-cleft lip / palate (EEC) syndrome
- Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome
- Limb-mammary syndrome (LMS)
- Split-hand / foot malformation type 4 (SHFM4)
- Isolated cleft lip / cleft palate (orofacial cleft 8 [OFC8] 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.
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
- Ulnar-mammary syndrome, another autosomal dominant condition – presents as ulnar ray defects, post-axial polydactyly, anal atresia, genitourinary abnormalities, hypohidrosis, and breast hypoplasia.
- AEC syndrome
- EEC syndrome
- ADULT syndrome
- OFC8 syndrome
- Goltz syndrome
- Terminal osseous dysplasia with pigmentary defects (TODPD)
- Odontotricholomelic syndrome