I orodigitofacial dysostosis orodigitofacial syndrome Summary Abnormalities of the orodental, facial, renal, and digital structures occurring in various combinations and frequently associated with retarded mental development. Aquiline thinning of the nose due to hypoplasia of the alar cartilage, broad nasal root, and flat nasal tip. Brain abnormalities may include hydrocephaly, hydranencephaly, porencephaly, partial agenesis of the corpus callosum, and hamartoma of the hypothalamus.
Seizures occur in some cases.
Mild mental retardation is seen in about half of the affected children. Precocious puberty may occur. The syndrome is transmitted as an X-linked dominant trait lethal in males.