Delleman syndrome

Delleman syndrome is a congenital malformation syndrome characterized by orbital cysts or periorbital dermal palsy, partial anophthalmia or microphthalmia, massive brain malformations and focal dermal hypo- or aplasia.

In addition, some patients have a cleft lip and palate, and also suffer from endocrine disorders. Hydrocephaly, narrow cerebral cortex, and deformed ventricles are seen on a cerebral MRI. Patients who survived the first year of life had cerebral seizures and a psychomotor retardation. 

Male patients are about twice as likely to be affected as female ones.

A mosaic for a lethal gene is the cause of the syndrome.