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ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome (EEC syndrome)
Pathology:
- ectrodactyly
- ectodermal dysplasia
- cleft lip, cleft palate
Genetics:
- autosomal dominant
- associated with germline mutations in the p53 homolog p63
Clinical manifestations:
1) ectodermal dysplasia affects skin, hair, nails & teeth
2) variable manifestations
a) lacrimal duct abnormalities
b) urogenital problems
c) conductive hearing loss
d) facial dysmorphism
e) chronic respiratory infections
f) developmental delay
Specific
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)
General
developmental disorder syndrome (multisystem disorder)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 129900
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: 10535733