Fraser syndrome

Also known as: Cryptophthalmos syndrome

Cryptophthalmos, syndactyly and renal agenesis.

Medical specialty: Nephrology
Subspecialty: Nephrology / Congenital anomalies of kidney and urinary tract
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, prenatal
Gene(s) involved: FRAS1, FREM2, GRIP1

Etiology & mechanism

Basement membrane adhesion defects.

Gene(s) involved (3)

FRAS1FREM2GRIP1

Symptoms & signs (6)

ambiguous genitaliacryptophthalmosgenital anomalieslaryngeal stenosisrenal agenesissyndactyly

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.