cryptophthalmos syndrome (Fraser syndrome)

Pathology

• multisystem malformation due to defect in developmental processes requiring cell death
• renal agenesis
• congenital heart defects
• failure of eyes fissures to form during embryogenesis
• 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

• cryptophthalmos
• cutaneous syndactyly (webbed fingers)
• ear abnormalities

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Additional terms

• branchiootorenal syndrome; branchio-oto-renal syndrome; BOR syndrome; Melnick-Fraser syndrome

Database

• OMIM: https://mirror.omim.org/entry/219000