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Disease Profile
Multicentric osteolysis, nodulosis and arthropathy
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)
Torg-Winchester Syndrome; Torg Syndrome; Nodulosis-Arthropathy-Osteolysis Syndrome,;
Summary
Orpha Number: 371428
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 facial shape |
Unusual facial appearance
|
0001999 |
Abnormal hand morphology |
Abnormal shape of hand
|
0005922 |
Joint inflammation
|
0001369 | |
Arthropathy |
Disease of the joints
|
0003040 |
Carpal osteolysis | 0001495 | |
Hirsutism |
Excessive hairiness
|
0001007 |
Osteolysis involving tarsal bones | 0006234 | |
Osteopenia | 0000938 | |
0000939 | ||
30%-79% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Brachycephaly |
Short and broad skull
|
0000248 |
Broad clavicles |
Broad collarbone
|
0000916 |
Broad metacarpals |
Wide long bones of hand
|
0001230 |
Sclerotic cranial sutures | 0005441 | |
Subcutaneous nodule |
Growth of abnormal tissue under the skin
Firm lump under the skin
[ more ] |
0001482 |
5%-29% of people have these symptoms | ||
Abnormality of the orbital region |
Abnormality of the eye region
Abnormality of the region around the eyes
[ more ] |
0000315 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Atrioventricular block |
Interruption of electrical communication between upper and lower chambers of heart
|
0001678 |
Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 |
Double outlet right ventricle | 0001719 | |
0000822 | ||
Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ] |
0002659 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Iris coloboma |
Cat eye
|
0000612 |
Mitral valve prolapse | 0001634 | |
Nodular goiter | 0005994 | |
Omphalocele | 0001539 | |
Papilledema | 0001085 | |
Polycystic ovaries | 0000147 | |
Premature thelarche |
Premature breast development
|
0010314 |
Pterygium | 0001059 | |
Type I |
Type 1 diabetes
Type I diabetes
[ more ] |
0100651 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
1%-4% of people have these symptoms | ||
Bulbous nose | 0000414 | |
C1-C2 subluxation | 0003320 | |
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Corneal opacity | 0007957 | |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Kyphoscoliosis | 0002751 | |
Wide cranial sutures |
Large cranial suture
Persistent open cranial sutures
[ more ] |
0010537 |
Percent of people who have these symptoms is not available through HPO | ||
Ankle flexion |
0006466 | |
Ankylosis of feet small joints | 0008090 | |
Antinuclear |
0003493 | |
Arthralgia |
Joint pain
|
0002829 |
0000007 | ||
Broad metatarsal |
Wide long bone of foot
|
0001783 |
Camptodactyly of toe | 0001836 | |
Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Distal tapering of metatarsals | 0008133 | |
Finger swelling | 0025131 | |
Frontal bossing | 0002007 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hip contracture | 0003273 | |
Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Interphalangeal joint contracture of finger | 0001220
OrganizationsSupport 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 moreThese 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
In-Depth Information
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