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Disease Profile

Syndactyly type 5

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

Infancy

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ICD-10

Q70.0 Q70.2

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)

Syndactyly with associated metacarpal and metatarsal fusion

Categories

Congenital and Genetic 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: 93406

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.

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
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
Finger bends toward pinky
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

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.

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.