Multiple synostoses syndrome 1

Title

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

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

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: 5/26/2014

Symptoms 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.

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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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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.

Find a Specialist Find a Specialist

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

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

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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