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Disease Profile
Singleton-Merten 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.
<1 / 1 000 000
Age of onset
No data available
ICD-10
Q78.8
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)
Merten-Singleton syndrome; SM syndrome; Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness;
Categories
Congenital and Genetic Diseases; Immune System Diseases; Musculoskeletal Diseases
Summary
Singleton-Merten
Commonly, people with type I interferonopathies are treated with high doses of intravenous methylprednisolone, oral
The genes causing Singeleton-Merten syndrome can activate type I
Symptoms
- Cavities and early loss of baby (primary) teeth, deformed permanent teeth with late eruption or early lost of these teeth
- Blockage and narrowing of the aorta due to calcified aortic stenosis leading to obstructing the flow of oxygenated blood
- Mitral valve calcification causing
high blood pressure (hypertension) - Abnormal transmission of the electrical impulses of the heart muscle (heart block)
- Abnormal contractions of the heart (systolic murmurs)
- Abnormal enlargement of the heart (cardiomegaly), with inability of the heart to pump blood causing heart failure by late adolescence
- Abnormal and progressive thinning and weakness of the bones (
osteoporosis ) resulting in bones that are frequently brittle and may fracture easily, affecting the skull and the long bones of the arms and legs, and the bones of the hands and fingers
Other symptoms that may occur may include: [1][2][3]
- Generalized muscle weakness and loss of muscle
tissue (muscle atrophy) starting between the ages of four to 24 months, that usually begin after a feverish illness - Growth delay resulting in
short stature Delay in acquiring motor skills - Malformation of the hips and/or feet and limbs or fingers Destruction of the tips of the bones of the fingers
- Chronic skin condition characterized by red, thick, scaly patches of skin (psoriasiform skin eruption)
- Vision loss due to an abnormal accumulation of pressure of the fluid of the eye (
glaucoma ) and/or abnormal sensitivity to light (photosensitivity) - Neurologic problems,
- Poor muscle tone (
hypotonia ) - Joint problems and tendon rupture
- Distinct facial features such a wide forehead with a high hairline, drooped eyelids (
ptosis ), decreased space between the nose and upper lip, and a thin upper lip border (vermillion). - Severe systemic lupus erythematosus
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 | ||
| Aortic arch calcification | 0005303 | |
| Aortic valve calcification | 0004380 | |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| 0000006 | ||
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
| Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
| Coxa valga | 0002673 | |
| Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] |
0000992 |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] |
0004325 |
| Expanded metacarpals with widened medullary cavities | 0006232 | |
| Expanded metatarsals with widened medullary cavities | 0008102 | |
| Expanded phalanges with widened medullary cavities | 0006112 | |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Genu valgum |
Knock knees
|
0002857 |
| Glaucoma | 0000501 | |
| High anterior hairline |
High frontal hairline
|
0009890 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
| Hip subluxation |
Partial hip dislocation
|
0030043 |
| 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 |
| Hypoplasia of the tooth germ |
Decreased size of tooth bud
Small tooth bud
[ more ] |
0006353 |
| Hypoplastic distal radial epiphyses | 0006386 | |
| Mitral valve calcification | 0004382 | |
| Muscle fiber atrophy |
Muscle fiber degeneration
|
0100295 |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| Onycholysis |
Detachment of nail
|
0001806 |
| Osteolytic defects of the phalanges of the hand |
Breakdown of small bones of fingers
|
0009771 |
| Osteoporosis | 0000939 | |
| Pes cavus |
High-arched foot
|
0001761 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
| Shallow acetabular fossae | 0003182 | |
| Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
| Smooth philtrum | 0000319 | |
| Subvalvular aortic stenosis |
Narrowing of blood vessel below aortic heart valve
|
0001682 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
| Tendon rupture |
Rupture of tendons
Ruptured tendon
[ more ] |
0100550 |
| Unerupted tooth |
Failure of eruption of tooth
|
0000706 |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
Diagnosis
X-ray tests to confirm the presence and extent of calcifications in the aorta,osteoporosis , and bone defects- Cardiac catheterization showing obstruction or narrowing (stenosis) of the heart valves, particularly the aortic and mitral valves. Catherization is a procedure where a hollow tube (
catheter ) is inserted into a large vein and threaded through the blood vessels leading to the heart, allowing to determine the rate of blood flow through the heart and to measure the pressure within the heart.
Treatment
- Intravenous methylprednisone
- Oral
prednisone - Intravenous immunoglobulin
Other medications that have being used include anti-rheumatic drugs such as metrotrexate, mycophenolate mofetil, azathioprine, as well as infliximab, etanercept, anakinra, tocilizumab, and rituximab but have not been effective in most cases.
Other possible treatment include:[2][4]
- Treatment of tooth decay and use of dental implants as well as regular visits to the dentist
- Treatment of heart problems which may include surgery and medications
Glaucoma treatment with eye drops, pills, laser surgery, and/or traditional surgery- Ostoeporosis treatment such as medications known as biphosphonates
- Skin problems treatment
Treatment may require a team of medical specialists, depending on the different symptoms. Special social support,
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 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
- 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 Singleton-Merten syndrome. Click on the link to view a sample search on this topic.
References
- Singleton Merten syndrome. NORD. https://rarediseases.org/rare-diseases/singleton-merten-syndrome/.
- Pettersson M, Bergendal B, Norderyd J, Nilsson D, Anderlid BM, Nordgren A & Lindstrand A. Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. Am J Med Genet A. May, 2017; 173(5):1396-1399. https://www.ncbi.nlm.nih.gov/pubmed/28319323.
- Ghadiam H & Mungee S. Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis. Case Reports in Cardiology. 2017; 2017:https://www.hindawi.com/journals/cric/2017/8197954/.
- Volpi S, Picco P, Caorsi R, Candotti F & Gattorno M. Type I interferonopathies in pediatric rheumatology. Pediatric Rheumatology Online Journal. 2016; 14:35. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893274/.
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