Summary
Multiple endocrine abnormalities-adenylyl cyclase dysfunction is characterised by the association of craniosynostosis, growth and developmental delay, and progressive multi-organ failure, particularly those of the endocrine system. Hepatic dysfunction, hypothyroidism, hypogonadism, insuline resistance and transitory hypoparathyroïdism have all been reported. The patients have pre and postnatal growth retardation, and peculiar dysmorphic features including a broad forehead with frontal bossing, hypotelorism, deep-set eyes, broad nose, short philtrum, absent tragus, and prognathism. Cryptorchidism, and teeth anomalies are also present. Intellectual deficit is mild. An autoimmune origin has been excluded for this disorder. Adenylcyclase dysfunction is responsible for this syndrome, although the primary defect remains unknown. This syndrome and Bangstad syndrome may be the same disorder. The vital prognosis for multiple endocrine abnormalities-adenylyl cyclase dysfunction is good, provided suitable medical management is available. *Author: Orphanet (February 2005)*.
