Oculodentodigital dysplasia syndrome

Also known as: ODDD

Small eyes, enamel defects and syndactyly.

Medical specialty: Dentistry
Subspecialty: Dentistry / Pediatric dentistry
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: GJA1

Etiology & mechanism

GJA1 mutation.

Gene(s) involved (1)

GJA1

Symptoms & signs (4)

enamel hypoplasiamicrophthalmiasyndactylythin nose

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