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cryptophthalmos syndrome (Fraser syndrome)
Pathology:
1) multisystem malformation due to defect in developmental processes requiring cell death
2) renal agenesis
3) congenital heart defects
4) failure of eyes fissures to form during embryogenesis
5) atresia of ear canals, anus, vagina, alimentary tract, or larynx. all these
Genetics:
- associated with defects in FREM2 gene
- associated with defects in FRAS1 gene
- autosomal recessive form associated with defects in BAG1
Clinical manifestations:
1) cryptophthalmos
2) cutaneous syndactyly (webbed fingers)
3) ear abnormalities
Related
branchiootorenal syndrome; branchio-oto-renal syndrome; BOR syndrome; Melnick-Fraser syndrome
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 219000
References
OMIM :accession 219000