(midface retraction syndrome)

Rare malformative syndrome. Autosomal recessive transmission. Facial dysmorphism: hypoplasia of midface with ocular proptosis with broad  and bulging forehead, hypertelorism, coarse facies. Flattened base of the nose with anteverted nostrils. Sometimes choanal atresia (50 %) Wide open fontanels. Cerebral atrophy on MRI. Urogenital anomalies: hydronephrosis (90 %), micropenis or hypoplasia of the labia minora. Skeletal abnormalities: large ribs, hypoplasia of the pubis, thick diaphyses of long bones, clubfoot, heart defect in 1/3 of cases. Alacrymia and macroglossia. Profound mental retardation, epilepsy. Risk of solid tumor: malignant sacrococcygeal teratoma, hepatoblastoma.

Early death (lung infection): 20 % before the age of 1 year, 90 % before the age of 4 years.

Anesthetic implications:

risk of difficult intubation (choanal atresia, macroglossia), epilepsy. Check echocardiography and renal function.

Updated: September 2018