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  3. Multiple synostoses syndrome 1
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Multiple synostoses syndrome 1


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Other Names:
Synostoses multiple with brachydactyly; Symphalangism brachydactyly syndrome; WL syndrome; Synostoses multiple with brachydactyly; Symphalangism brachydactyly syndrome; WL syndrome; Deafness-symphalangism syndrome of Herrmann; Facioaudiosymphalangism syndrome; SYNS1 See More
Categories:
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Musculoskeletal Diseases

Summary Summary


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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.
Last updated: 5/1/2014

Symptoms Symptoms


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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.

Showing of 48 |
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
Showing of 48 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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You can help advance rare disease research!
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