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Gomez Lopez Hernandez syndrome


Other Names:
Cerebellotrigeminal-dermal dysplasia; Cerebellotrigeminal dermal dysplasia; Gomez-Lopez-Hernández syndrome; Cerebellotrigeminal-dermal dysplasia; Cerebellotrigeminal dermal dysplasia; Gomez-Lopez-Hernández syndrome; Cerebellotrigeminal-dermal dysplasia syndrome; Craniosynostosis-alopecia-brain defect syndrome See More
Categories:
Gomez Lopez Hernandez syndrome (GLHS) is a rare condition characterized by partial scalp baldness (alopecia); numbness of the face, eyes, sinuses, and mouth (trigeminal anesthesia); and a brain abnormality called rhombencephalosynapsis. Additional symptoms vary but may include distinctive facial features, intellectual disability or other neurological problems, and craniofacial abnormalities. The cause of GLHS is poorly understood. It may be genetic, possibly with autosomal recessive inheritance. Treatment depends on the signs and symptoms present in each person.[1][2][3]
Last updated: 4/21/2017
Gomez Lopez Hernandez syndrome is primarily characterized by:[1][2]
  • Rhombencephalosynapsis - partial or total absence of the cerebellar vermis (the area between the two cerebellar hemispheres) and fusion of the hemispheres
  • Trigeminal anesthesia - a neurological disorder that causes numbness of the face, eyes, sinuses, and mouth
  • Scalp alopecia - partial or complete hair loss
Other signs and symptoms vary but may include:[1][2]
  • Poor muscle tone (hypotonia)
  • Ataxia
  • Behavioral abnormalities
  • Intellectual disability
  • Developmental delay
  • Craniofacial abnormalities
  • Seizures
  • Corneal opacities (clouding of the clear front covering of the eye)
  • Short stature
  • Distinctive facial features (i.e. wide-spaced eyes and low-set, posteriorly rotated ears)
Last updated: 5/13/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of brainstem morphology
Abnormal shape of brainstem
0002363
Alopecia of scalp
Pathologic hair loss from scalp
Scalp hair loss
[ more ] 		0002293
Ataxia 0001251
Brachycephaly
Short and broad skull
0000248
Cerebellar vermis hypoplasia 0001320
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Corneal opacity 0007957
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Impaired pain sensation
Decreased pain sensation
0007328
Intellectual disability, moderate
IQ between 34 and 49
0002342
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Turricephaly
Tall shaped skull
Tower skull shape
[ more ] 		0000262
30%-79% of people have these symptoms
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Mask-like facies
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] 		0000298
Telecanthus
Corners of eye widely separated
0000506
Thin vermilion border
Decreased volume of lip
Thin lips
[ more ] 		0000233
Toenail dysplasia
Abnormal toenail development
0100797
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
Percent of people who have these symptoms is not available through HPO
Agenesis of cerebellar vermis 0002335
Alopecia
Hair loss
0001596
Bipolar affective disorder
Bipolar disorder
0007302
Craniosynostosis 0001363
Depressivity
Depression
0000716
Fusion of the cerebellar hemispheres 0006899
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Growth hormone deficiency 0000824
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hyperactivity
More active than typical
0000752
Hyperreflexia
Increased reflexes
0001347
Hypertonia 0001276
Malar flattening
Zygomatic flattening
0000272
Opacification of the corneal stroma 0007759
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Rhombencephalosynapsis 0031913
Seizure 0001250
Self-injurious behavior
Self-injurious behaviour
0100716
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Skull asymmetry
Asymmetry of skull
0002678
Smooth philtrum 0000319
Sporadic
No previous family history
0003745
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Trigeminal anesthesia 0031912
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
Wormian bones
Extra bones within cranial sutures
0002645
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Last updated: 7/1/2020
The cause of Gomez Lopez Hernandez syndrome (GLHS) currently is unknown. While it occurs sporadically, researchers have suspected that it has a genetic basis.[4] However, no specific gene mutations or chromosome abnormalities that cause GLHS have been identified yet.[4] Three cases have been associated with consanguinity (when parents are related), suggesting the possibility of autosomal recessive inheritance.[3][4] Further studies need to be performed to find the underlying cause of GLHS.[3]
Last updated: 4/21/2017

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.
  3. Choudhary A, Minocha P, Sitaraman S. Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcontinent. Intractable Rare Dis Res. February, 2017; 6(1):58-60. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359355/.
  4. Saricam MH, Tekin B, Unver O, Ekinci G, Ergun T. Gómez-López-Hernández Syndrome: A Rare Cause of Bilateral Nonscarring Alopecia. Pediatr Dermatol. November-December, 2015; 32(6):e251-254. https://www.ncbi.nlm.nih.gov/pubmed/26391554.