Rare Medical News

Disease Profile

Sillence syndrome

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

Q74.8

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)

Brachydactyly-distal symphalangism syndrome

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: 3168

Definition
Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.

Epidemiology
The syndrome has been described in one family with five affected individuals from three successive generations.

Genetic counseling
Transmission appears to be autosomal dominant.

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
Pes cavus
High-arched foot
0001761
30%-79% of people have these symptoms
Aplasia of the middle phalanx of the hand
Absent middle bones of hand
0010239
Flat acetabular roof
0003180
Metatarsus adductus
Front half of foot turns inward
0001840
Scoliosis
0002650
Short middle phalanx of finger
Short middle bone of finger
0005819
5%-29% of people have these symptoms
Abnormal morphology of the proximal phalanx of the hallux
Abnormal innermost big toe bone
0010052
Abnormal proximal phalanx morphology of the hand
Abnormality of the innermost finger bones of the hand
0009834
Abnormality of the nail
0001597
Back pain
0003418
Broad metatarsal
Wide long bone of foot
0001783
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Bulbous tips of toes
0001782
Camptodactyly
Permanent flexion of the finger or toe
0012385
Chess-pawn distal phalanges
Chess-pawn shaped outermost bone
0006170
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Intervertebral disc degeneration
0008419
Large iliac wings
0008818
Large tarsal bones
Large ankle bones
0004679
Oval face
Oval facial shape
0000300
Platyspondyly
Flattened vertebrae
0000926
Slender build
Thin build
0001533
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Bilateral single transverse palmar creases
0007598
Broad foot
Broad feet
Wide foot

[ more ]

0001769
Camptodactyly of finger
Permanent flexion of the finger
0100490
Distal symphalangism of hands
Fused outermost bones of hand
0001204
Short 1st metacarpal
Shortened 1st long bone of hand
0010034
Single transverse palmar crease
0000954
Tall stature
Increased body height
0000098
Thoracolumbar scoliosis
0002944
Type A1 brachydactyly
0009371

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 Sillence syndrome. Click on the link to view a sample search on this topic.