Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Limb-mammary syndrome

Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

Cleft lip

A gap in the lip or lips.

Total: 1

(per page)

PMID (PMCID)
21990121	MALE	Adult
	Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
	Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E. Am J Med Genet A. 2011;155A(11):2746-9.
	Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate.