Gomez-Lopez-Hernandez syndrome

A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.

Also known as: Cerebellotrigeminal-dermal dysplasia syndrome, Gomez-Lopez-Hernandez syndrome, craniosynostosis-alopecia-brain defect syndrome, Cerebellotrigeminal dermal dysplasia, Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia, Cerebellotrigeminal-dermal dysplasia, GLHS, GOMEZ-LOPEZ-HERNANDEZ syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Gomez-Lopez-Hernandez syndrome itself.