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Disease Profile
Cerebro-oculo-facio-skeletal 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
Neonatal
ICD-10
Q87.1
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)
COFS syndrome; Pena-Shokeir syndrome type 2
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Cerebro-oculo-facio-skeletal (COFS)
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 | ||
Abnormal nasal morphology |
Abnormal of nasal shape
Abnormal of shape of nose
[ more ] |
0005105 |
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 |
Arthrogryposis multiplex congenita | 0002804 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Feeding difficulties in infancy | 0008872 | |
Hypertonia | 0001276 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Muscular |
Low or weak muscle tone
|
0001252 |
Prominent metopic ridge | 0005487 | |
Severe global |
0011344 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
30%-79% of people have these symptoms | ||
Abnormality of |
0010978 | |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] |
0000992 |
Decreased activity of gonads
|
0000135 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Reduced tendon reflexes | 0001315 | |
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Short neck |
Decreased length of neck
|
0000470 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
5%-29% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Optic atrophy | 0000648 | |
0009830 | ||
Talipes | 0001883 |
Cause
In many people, the cause of the disorder is unknown. Mutations in one or more as-yet unidentified genes may be responsible for the disorder in these cases.[1]
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
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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Differential diagnoses include infectious fetopathies (cytomegalovirus, rubella, toxoplasmosis; see these terms) and MICRO syndrome (see this term) that can present as clinically similar to COFS syndrome, but with normal DNA repair.
Visit the Orphanet disease page for more information.
|
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
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.
- The 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 Cerebro-oculo-facio-skeletal syndrome. Click on the link to view a sample search on this topic.
References
- NINDS Cerebro-Oculo-Facio-Skeletal Syndrome Information Page. National Institute of Neurological Disorders and Stroke Website. November 18, 2008; https://www.ninds.nih.gov/disorders/cofs/cofs.htm. Accessed 10/14/2016.
- Pr Hélène Dollful Pr Vincent Laugel. COFS syndrome. Orphanet. February 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1466. Accessed 10/14/2016.
- Cassandra L. Kniffin. CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3. OMIM. 9/23/2015; https://omim.org/entry/616570?search=ERCC5&highlight=ercc5. Accessed 10/14/2016.
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