Rare Immunology News

Disease Profile

Sener 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)

Frontonasal dysplasia and dilated virchow-robin spaces; Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia

Symptoms

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
Percent of people who have these symptoms is not available through HPO
Anteriorly placed anus
0001545
Chronic diarrhea
0002028
Coarse hair
Coarse hair texture
0002208
Delayed eruption of permanent teeth
Delayed eruption of adult teeth
0000696
Eczema
0000964
Entropion
Eyelid turned in
0000621
Global developmental delay
0001263
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hyperopic astigmatism
0000484
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypodontia
Failure of development of between one and six teeth
0000668
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Inguinal hernia
0000023
Micropenis
Short penis
Small penis

[ more ]

0000054
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Natal tooth
Born with teeth
Teeth present at birth

[ more ]

0000695
Patent ductus arteriosus
0001643
Perivascular spaces
0012520
Polyhydramnios
High levels of amniotic fluid
0001561
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Smooth philtrum
0000319
Sporadic
No previous family history
0003745
Umbilical hernia
0001537
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154

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.

Organizations Supporting this Disease

    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. 
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Sener syndrome. Click on the link to view a sample search on this topic.