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I'm not sure if it's a disease as such
but microcephalic primordial dwarfism.

Awwwww:

anthropologynet.files.wordpress.com/2008/01/primordial-dwarfism.jpg
(, Thu 11 Jun 2009, 16:13, archived)
Fake
She's just really far away.
(, Thu 11 Jun 2009, 16:16, archived)