[MIM 617 180]

Autosomal dominant transmission of a mutation of the ERF gene (19q13.2).

This rare condition is characterized by

-        respiratory distress at birth caused by diffuse trachea-bronchomalacia,

-        characteristic facial features: prominent eyes with hypertelorism, depressed nasal bridge, full lips, and an  upturned nose, a box-shaped skull with frontal and parietal bossing, midface hypoplasia, long philtrum, and retrognathia.

-        anomalies of the hands : they are small with short middle fingers, with an extra phalanx on the radial aspect of the index fingers.. The index fingers also show clinodactyly, and there is proximal insertion of the thumbs, soft tissue syndactyly of the thumb and index fingers. On X-ray: hyperphalangism, dysplasia of some phalanges, delayed ossification of carpal bones.

-        anomalies of the feet: proximal displacement of the first phalanx of the great toe and hallux valgus.

Anesthetic implications:

tracheo-bronchomalacia, risk of difficult mask ventilation and intubation.

References:

Update : March 2019