scotopic sensitivity syndrome

A form of arteriopathy characterized by severe transient neurological symptoms, or stroke, and livedo reticularis or livedo racemosca.

A triad of severe neuropsychological impairments: simultanagnosia, oculomotor apraxia, and optic ataxia.

A form of trichothiodystrophy characterised by ichthyosis, brittle hair and nails, intellectual impairment, and short stature.

Alternative form of Gardner syndrome

A form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon.

A severe form of ichthyosis.

Synonym of Menkes disease

A cyanotic heart defect in which a left-to-right shunt causes increased flow through the pulmonary vasculature, leading to hypertension, which in turn causes increased pressure in the right side of the heart and reversal of the shunt into a right-to-left shunt.

A syndrome of alienation and violence among school pupils.