Meier–Gorlin syndrome

Also known as: Ear–patella–short stature syndrome

Primordial dwarfism with microtia and absent patellae.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6

Etiology & mechanism

DNA replication licensing defects.

Gene(s) involved (8)

CDC45CDC6CDT1GMNNMCM5ORC1ORC4ORC6

Symptoms & signs (6)

absent or small patellaefeeding difficultiesgenital hypoplasiamicrocephalymicrotiashort stature

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