Main diagnostic features include nasal alar
hypoplasia, hypothyroidism, pancreatic achylia because of acinar development
disorder, and congenital neurosensorial deafness. Patients have abnormally
small, malformed primary (deciduous) teeth and misshapen or absent secondary
(permanent) teeth. Pancreatic achylia leads to pancreatic insufficiency with
malabsorption. Growth and mental retardation are common, and imperforate
anus is almost always present. Associated signs include midline ectodermal
scalp defects and absent permanent teeth. Urogenital disorders include
double vagina and/or uterus, rectovaginal fistula, and imperforate anus.
Brain imaging may show abnormal brain gyri, and neuropathologic examinations
demonstrate cortical neuronal disorganization. Congenital heart defects
include situs inversus and ventricular and septal defects.