EEC syndrome sans clefting: variable clinical presentations in a family.
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.
Thakkar
Sejal
S
Department of Dermatology, Medical College, Vadodara, Gujarat, India. chiku1305@rediffmail.com
Marfatia
Yogesh
Y
D000328:Adult; D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005530:Foot Deformities / Q000235:genetics* / Q000473:pathology; D006201:Hair Diseases / Q000235:genetics / Q000473:pathology; D006226:Hand Deformities / Q000235:genetics*; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000235:genetics; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics / Q000473:pathology