Opitz-Frias Syndrome (The G Syndrome)

Overall incidence not reported

Very rare congenital disorder

Very high risk of recurrent pulm aspiration; hypoplasia of both pulm and vascular components of one lung (pulm hypoplasia)

High mortality rate in infancy

NM dysfunction of laryngoesophageal apparatus

Laryngotracheoesophageal cleft or fistula

Difficult tracheal intubation due to assoc craniofacial deformity

Assoc congenital anomalies (Htn, hypospadias, wide eyes, cleft lip, cleft palate, cryptorchidism, imperforate anus, cardiac deficits)

Also known as the hypospadias-dysphagia syndrome.

Emergency presentations are for cardiopulmonary resuscitation, upper respiratory obstruction, severe respiratory stridor, regurgitation, aspiration.

Presence of one hypoplastic lung.

Laryngeal hypoplasia.

Laryngotracheoesophageal cleft or fistula.

Anticipate very difficult tracheal intubation.

Thorough preop cardiac evaluation; need to assess for cardiac abnormalities (possible ECHO).

Any male infant presenting for tracheoesophageal fistula with genital defect should be suspected.

Classically: Weak, hoarse cry

X-linked recessive inheritance.

Autosomal dominant inheritance or new mutation.

Partial male sex limitation.

Autosomal recessive inheritance, high parenteral consanguinity.

Females can be equally or nearly as severely affected as males.