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Disease Profile

Multiple synostoses syndrome 1

Prevalence
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

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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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

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 3237

Definition
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

Visit the Orphanet disease page for more resources.

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
Brachydactyly
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 syndactyly
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
Autosomal dominant inheritance
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
Strabismus
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.