A multisystem malformation complex (OMIM:219000) usually characterised by cryptophthalmos, cutaneous syndactyly, ear defects, renal agenesis and congenital heart defects.
Molecular pathology Defects of
• FRAS1 (OMIM:607830), which encodes a matrix protein involved in regulating epidermal-basement membrane adhesion and organogenesis during development, or
• FREM2 (OMIM:608945), which encodes a basement membrane protein that plays a role in craniofacial and renal development and epithelial differentiation, or
• GRIP1 (OMIM:604597), which encodes a protein thought to act as a localised scaffold for assembling a multiprotein signaling complex and mediating trafficking of its binding partners at specific subcellular sites in neurons,
all cause Fraser syndrome.
Synonyms Cryptophthalmos-syndactyly syndrome, cryptophthalmos with other malformations