Amelogenesis imperfecta with nephrocalcinosis syndrome

Also known as: Enamel-renal syndrome

Amelogenesis imperfecta with nephrocalcinosis.

Medical specialty: Dentistry
Subspecialty: Dentistry / Pediatric dentistry
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: FAM20A

Etiology & mechanism

FAM20A mutation.

Gene(s) involved (1)

FAM20A

Symptoms & signs (3)

enamel hypoplasiagingival hyperplasianephrocalcinosis

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