Gomez Lopez Hernandez syndrome

Title

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:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

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

Symptoms Symptoms

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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2020

Do you have updated information on this disease? We want to hear from you.

Cause Cause

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

Treatment Treatment

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.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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

The University of Washington's Hindbrain Malformation Research Program invites individuals with this condition to participate in their research program. Click on the link for more information on how to participate in their research study.

Organizations Organizations

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

Visit the following Facebook groups related to Gomez Lopez Hernandez syndrome:
Cerebello-Trigeminal Dermal Dysplasia a.k.a. Gomez-Lopez-Hernandez Syndrome

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.

News & Events News & Events

News

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GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

References References

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.
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.
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/.
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.