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Disease Profile
Knobloch 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
Infancy
ICD-10
Q15.8
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)
Myopia retinal detachment encephalocele; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
Knobloch
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Calvarial skull defect |
Cranial defect
Skull defect
[ more ] |
0001362 |
Macular degeneration | 0000608 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Occipital encephalocele |
Brain tissue sticks out through back of skull
|
0002085 |
Retinal detachment |
Detached retina
|
0000541 |
30%-79% of people have these symptoms | ||
Too much cerebrospinal fluid in the brain
|
0000238 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] |
0000529 |
Vitreoretinopathy | 0007773 | |
5%-29% of people have these symptoms | ||
Abnormal hair morphology |
Abnormality of the hair
Hair abnormality
[ more ] |
0001595 |
Bifid ureter | 0030037 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Dextrocardia |
Heart tip and four chambers point towards right side of body
|
0001651 |
Ectopia lentis | 0001083 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Lymphangioma | 0100764 | |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Patent ductus arteriosus | 0001643 | |
Pyloric stenosis | 0002021 | |
0001250 | ||
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Vesicoureteral reflux | 0000076 | |
Percent of people who have these symptoms is not available through HPO | ||
Alopecia |
Hair loss
|
0001596 |
0001251 | ||
0000007 | ||
Band keratopathy | 0000585 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Developmental cataract |
Clouding of the lens of the eye at birth
|
0000519 |
High myopia |
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ] |
0011003 |
Macular hypoplasia | 0001104 | |
Peripapillary atrophy | 0500087 | |
Phthisis bulbi | 0000667 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Ventriculomegaly | 0002119 | |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
Cause
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
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The differential diagnosis should include the following syndromes: Stickler, Wagner, Marshall, Meckel and HARD±E syndrome (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 1-800-683-5555
Telephone: +1-410-423-0600
TTY: 1-800-683-5551
E-mail: [email protected]
Website: https://www.fightingblindness.org/
Social Networking Websites
- Visit the following Facebook groups related to Knobloch syndrome:
Humans with Knobloch Syndrome Resource & Support Group
Organizations Providing General Support
-
National Alliance for Eye and Vision Research (NAEVR)
5515 Security Lane
Suite 500
Rockville, MD 20852
Telephone: +1-240-221-2905
E-mail: [email protected]
Website: https://www.eyeresearch.org/ -
Retina International
Suite 108, Camden Business Centre
12 Camden Row
Dublin 8
Ireland
Telephone: +353 1 472 0468
E-mail: [email protected]
Website: https://www.retina-international.org/
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Knobloch syndrome. This website is maintained by the National Library of Medicine.
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 Knobloch syndrome. Click on the link to view a sample search on this topic.
References
- Knobloch syndrome. Genetics Home Reference (GHR). June 2011; https://ghr.nlm.nih.gov/condition/knobloch-syndrome.
- Knobloch syndrome, type I. Online Mendelian Inheritance in Man (OMIM). September 19, 2016; https://www.omim.org/entry/267750.
- Dulac O. Knobloch syndrome. Orphanet. September 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1571.
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