Schimmelpenning syndrome

The Schimmelpenning Feuerstein -Mims syndrome is a rare congenital malformation syndrome of skin and nervous system on a genetic basis.

Symptoms

On the skin leads to a variety of nevi especially the head and neck, followed by the so-called lines of Blaschko. Often partially missing around the scalp.

The particularly severe developmental disorder of the brain leading to mental retardation, central paralysis, epilepsy and malformations of the eye ( coloboma, microphthalmia ).

Finally, developmental disorders of the heart occur.

History

The syndrome is named after the Erstbeschreibern: Gustav W. Schimmelpenning (Kiel), Richard C. Feuerstein and Leroy C. Mims (USA).