Gomez-Lopez-Hernandez syndrome

Last revised by Francis Fortin on 14 Oct 2022

Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterized by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia. 

Epidemiology

There have only been 35 reported cases (c. 2017) of Gomez-Lopez-Hernandez syndrome 3.

History and etymology

It is named after Manuel Rodríguez Gómez (1928-2006) and Alejandro Lopez-Hernandez.

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