SMDP is a usually fatal disorder in which full-term infants present with progressive hypoxemic respiratory failure. Most patients require mechanical ventilation, and some even cardiopulmonary bypass. Therapeutic options are limited.
Certain conditions originating in the perinatal period
Respiratory and cardiovascular disorders specific to the perinatal period
Autosomal recessive
2p11.2
SMDP is a usually fatal disorder in which full-term infants present with progressive hypoxemic respiratory failure. Most patients require mechanical ventilation, and some even cardiopulmonary bypass. Therapeutic options are limited.