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Disease Profile
Multiple synostoses syndrome 1
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
Childhood
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)
Synostoses multiple with brachydactyly; Symphalangism brachydactyly syndrome; WL syndrome;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 3237
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 | ||
Short fingers or toes
|
0001156 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Short palm | 0004279 | |
Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
30%-79% of people have these symptoms | ||
Bilateral single transverse palmar creases | 0007598 | |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
5%-29% of people have these symptoms | ||
Abnormality of the nail | 0001597 | |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Percent of people who have these symptoms is not available through HPO | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Abnormal vertebral morphology | 0003468 | |
Absent distal interphalangeal creases | 0001032 | |
Absent distal phalanges |
Absent outermost digital bones
|
0005807 |
Anonychia |
Absent nails
Aplastic nails
[ more ] |
0001798 |
Aplasia/Hypoplasia of the middle phalanges of the hand |
Absent/small middle finger bone of the hand
Absent/underdeveloped middle finger bone of the hand
[ more ] |
0009843 |
Aplastic/hypoplastic toenail |
Absent/small toenails
Absent/underdeveloped toenails
[ more ] |
0010624 |
0000006 | ||
Carpal synostosis | 0009702 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Cubitus valgus |
Outward turned elbows
|
0002967 |
Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ] |
0010554 |
Dislocated radial head | 0003083 | |
Enlargement of the costochondral junction | 0000920 | |
Fusion of midphalangeal joints | 0006187 | |
Hypoplastic nasal septum |
Decreased size of nasal septum
Decreased size of septum of nose
Small nasal septum
Small septum of nose
[ more ] |
0005104 |
Hypoplastic spinal processes |
Underdeveloped spinal processes
|
0008460 |
Lower limb undergrowth |
Underdeveloped lower limb bones
|
0009816 |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Pectus excavatum |
Funnel chest
|
0000767 |
Progressive conductive hearing impairment | 0008607 | |
Proximal symphalangism of hands |
Fused innermost hinge joints
|
0006152 |
Radial deviation of finger | 0009466 | |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Short hallux |
Short big toe
|
0010109 |
Short humerus |
Short long bone of upper arm
Short upper arms
[ more ] |
0005792 |
Short lower limbs |
Short legs
|
0006385 |
Short philtrum | 0000322 | |
Short sternum | 0000879 | |
Single transverse palmar crease | 0000954 | |
Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
Stapes ankylosis | 0000381 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Tarsal synostosis |
Fused ankle bones
|
0008368 |
Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ] |
0000215 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
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.
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.
- 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 Multiple synostoses syndrome 1. Click on the link to view a sample search on this topic.