Opitz G/BBB syndrome

Also known as: Opitz–Frias syndrome

Hypertelorism, hypospadias and laryngotracheoesophageal anomalies.

Medical specialty: ENT
Subspecialty: ENT / Laryngology and head and neck
Sex & age distribution: Male: affected, X-linked; Female: affected, milder; Children: yes
Gene(s) involved: MID1, SPECC1L

Etiology & mechanism

MID1 or SPECC1L mutation.

Gene(s) involved (2)

MID1SPECC1L

Symptoms & signs (5)

cleft liphypertelorismhypospadiaslaryngeal cleftswallowing difficulty

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