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Ectrodactyly ectodermal dysplasia and cleft lip and palate 3 OMIM

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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604292

Description: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
Alternative titles;
EEC SYNDROME 3
The features of EEC syndrome are ectrodactyly of hands and feet, ectodermal dysplasia, and cleft lip/palate. Maas et al. (1996) found great variability in the clinical manifestations of EEC in affected members of a large Dutch kindred.
Kosaki et al. (2008) reported a Japanese infant with split hand-foot malformation and cleft lip and palate. He had underdevelopment of the central digital rays of both hands and feet, sparse hair, and thin and dry skin.

Type: Reference Material
Author/Contact: Victor A. McKusick
Institution: OMIM
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 639
Added: Sat Aug 08 2009