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Genetic and Rare Diseases Information Center (GARD)

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Gomez Lopez Hernandez syndrome


Other Names for this Disease
  • Cerebellotrigeminal - dermal dysplasia
  • Cerebellotrigeminal dermal dysplasia
  • Cerebellotrigeminal-dermal dysplasia
  • Craniosynostosis - alopecia - brain defect
  • Gómez-López-Hernández syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Gomez Lopez Hernandez syndrome is a rare condition that is characterized by alopecia of the scalp; numbness of the face, eyes, sinuses, and mouth (also called trigeminal anesthesia), and rhombencephalosynapsis (an abnormality of the cerebellum). Other signs and symptoms vary but may include distinctive facial features, other neurological problems, and craniofacial abnormalities. The exact underlying cause of the condition is unknown; however, some scientists believe that the condition may be due to genetics or teratogenic (substances that cause birth defects) exposures during pregnancy. Treatment depends on the signs and symptoms present in each person.[1][2]
Last updated: 5/13/2015

References

  1. Fernández-Jaén A, Fernández-Mayoralas DM, Calleja-Pérez B, Muñoz-Jareño N, Moreno N. Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature. Pediatr Neurol. January 2009; 40(1):58-62.
  2. Kobayashi Y, Kawashima H, Magara S, Akasaka N, Tohyama J. Gómez-López-Hernández syndrome in a Japanese patient: a case report. Brain Dev. March 2015; 37(3):356-358.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gomez Lopez Hernandez syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cerebellotrigeminal - dermal dysplasia
  • Cerebellotrigeminal dermal dysplasia
  • Cerebellotrigeminal-dermal dysplasia
  • Craniosynostosis - alopecia - brain defect
  • Gómez-López-Hernández syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.