ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome (EEC syndrome)
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Pathology
- ectrodactyly
- ectodermal dysplasia
- cleft lip, cleft palate
Genetics
- autosomal dominant
- associated with germline mutations in the p53 homolog p63
Clinical manifestations
- ectodermal dysplasia affects skin, hair, nails & teeth
- variable manifestations
- lacrimal duct abnormalities
- urogenital problems
- conductive hearing loss
- facial dysmorphism
- chronic respiratory infections
- developmental delay
More general terms
More specific terms
- ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 1 (EEC1)
- ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 2 (EEC2)
- ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3)
References
- ↑ OMIM #129900
- ↑ Celli J et al, Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 1999 Oct 15;99(2):143-53. PMID: https://www.ncbi.nlm.nih.gov/pubmed/10535733