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Gomez-Lopez-Hernandez syndrome
rareA 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.
- Identifiers
- MONDO:0011157 OMIM:601853Orphanet:1532
- Also known as
- Cerebellotrigeminal dermal dysplasia · Cerebellotrigeminal-dermal dysplasia · Cerebellotrigeminal-dermal dysplasia syndrome · craniosynostosis-alopecia-brain defect syndrome · GLHS
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