[MIM 617 180]

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

Association of:

-        respiratory distress in the neonatal period: tracheo- and broncho- malacia with absence or immaturity of the cartilage; distal bronchial stenosis

-         bilateral hallux valgus

-        facial dysmorphism: bulging eyes, hypertelorism, full lips, upturned nose with depressed nasal bridge

-        accessory phalanx at the radial side of some fingers, usually the index finger: short indexes with ulnar deviation

-        pectus excavatum

Anesthetic implications:

difficult ventilation, mostly in the neonatal period

References:        

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Updated: May 2020