Gomez-Lopez-Hernandez syndrome
Gomez-Lopez-Hernandez syndrome
Definition
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, craniosynostosis-alopecia-brain defect syndrome, Gomez-Lopez-Hernandez syndrome — per MONDO