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Disease Profile

Gomez Lopez Hernandez syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Cerebellotrigeminal-dermal dysplasia; Cerebellotrigeminal dermal dysplasia; Gomez-Lopez-Hernández syndrome;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

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]

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)

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.

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
1%-4% of people have these symptoms
Alopecia
Hair loss
0001596
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Global developmental delay
0001263
Malar flattening
Zygomatic flattening
0000272
Rhombencephalosynapsis
0031913
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Trigeminal anesthesia
0031912
Percent of people who have these symptoms is not available through HPO
Agenesis of cerebellar vermis
0002335
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
Opacification of the corneal stroma
0007759
Posteriorly rotated ears
Ears rotated toward back of head
0000358
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
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
Wormian bones
Extra bones within cranial sutures
0002645

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]

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.

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

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.

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.
  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.

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