Opitz–Kaveggia syndrome

Also known as: FG syndrome

X-linked intellectual disability with macrocephaly and imperforate anus.

Medical specialty: Genetics
Subspecialty: Genetics / Single-gene syndromes
Sex & age distribution: Male: affected, X-linked; Female: carriers; Children: yes
Gene(s) involved: CASK, FLNA, MED12, UPF3B, ZDHHC9

Etiology & mechanism

MED12 mutation.

Gene(s) involved (5)

CASKFLNAMED12UPF3BZDHHC9

Symptoms & signs (6)

agenesis of corpus callosumbroad thumbsconstipationhypotoniaimperforate anusmacrocephaly

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