Cerebello-Trigeminal Dermal Dysplasia (Gomez-Lopez-Hernandez Syndrome)

Cerebello-trigeminal dermal (CTD) dysplasia (OMIM # 601853) (OMIM 2006) is an uncommon congenital disorder of the cerebellum, trigeminal nerves, cranial sutures and scalp (Munoz et al. 2004). Clinically, CTD dysplasia is characterised by craniosynostosis, parieto-occipital scalp alopecia, trigeminal nerve anaesthesia, short stature, cerebellar abnormalities (usually of the rhombencephalosynapsis/RES type), ataxia and intellectual impairment (Brocks et al. 2000; Gomez 1979, 1987; Gomy et al. 2008; Lopez- Hernandez 1982; Munoz et al. 1997, 2004; Pascual- Castroviejo 1983; Poretti et al. 2008; Schell-Apacik et al. 2007; Tan et al. 2005).