Syndactyly type 5

Title

Other Names:

Syndactyly with associated metacarpal and metatarsal fusion

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

This disease is grouped under:

Syndactyly

Summary Summary

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

Orpha Number: 93406

Disease definition

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

Epidemiology

So far, less than ten reports have been described in the literature.

Clinical description

Soft tissue syndactyly (involving the 3rd and 4th fingers and the 2nd and 3rd toes) may be present.

Etiology

The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative.

Genetic counseling

The condition is inherited as an autosomal dominant trait.

Visit the Orphanet disease page for more resources.

Last updated: 10/15/2010

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
Metacarpal synostosis	Fused long bones of hand	0009701
Metatarsal synostosis	Fusion of the long bones of the feet	0001440
Short distal phalanx of finger	Short outermost finger bone	0009882
Ulnar deviation of finger		0009465
30%-79% of people have these symptoms
2-3 toe syndactyly	Webbed 2nd and 3rd toes	0004691
3-4 finger syndactyly	Webbed 3rd-4th fingers	0006097
Camptodactyly of finger	Permanent flexion of the finger	0100490
5%-29% of people have these symptoms
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Percent of people who have these symptoms is not available through HPO
3-4 toe syndactyly	Webbed 3rd-4th toes	0009779
4-5 toe syndactyly	Webbed 4th-5th toes	0004692
Absent distal interphalangeal creases		0001032
Autosomal dominant inheritance		0000006
Brachydactyly	Short fingers or toes	0001156
Carpal synostosis		0009702
Cutaneous finger syndactyly	Webbed fingers Webbed skin of fingers [ more ]	0010554
Enlarged proximal interphalangeal joints	Enlarged innermost hinge joint	0006185
Fused fourth and fifth metacarpals	Fused 4th-5th long bones of hand	0005867
Joint contracture of the hand		0009473

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

Last updated: 10/1/2018

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.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The University of California San Francisco Limb Study is researching the genetic causes of limb malformations. They are looking for participants who only have problems with their limbs, such as fused or webbed fingers/toes, more than 5 fingers/toes, less than 5 fingers/toes, split hand and foot also called ectrodactyly, short fingers/toes, bent pinky fingers, extra long fingers, flexed fingers, club foot, etc. Visit the study’s website to learn more about who is eligible to take part in this study.

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.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

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 Syndactyly type 5. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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