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Disease Profile
Gomez Lopez Hernandez syndrome
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.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Symptoms
- 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 | |
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 | |
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 |
0001363 | ||
Depressivity |
Depression
|
0000716 |
Fusion of the cerebellar hemispheres | 0006899 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Growth |
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
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
- Visit the following Facebook groups related to Gomez Lopez Hernandez syndrome:
Cerebello-Trigeminal Dermal Dysplasia a.k.a. Gomez-Lopez-Hernandez Syndrome
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
- 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.
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