EEC syndrome sans clefting: variable clinical presentations in a family
Thakkar, S.; Marfatia, Y.
Indian Journal of Dermatology Venereology and Leprology 73(1): 46-48
2007
ISSN/ISBN: 0378-6323 PMID: 17314449 Document Number: 608231
Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly), epiphora, hair changes and deafness with variable involvement in each family member.