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Disease Profile
Symphalangism with multiple anomalies of hands and feet
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.
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.
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Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Learman 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.
Orpha Number: 3246
Definition
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.
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 | ||
| Reduced proximal interphalangeal joint space |
Decreased space in hinge joint
|
0006019 |
| Symphalangism of the 4th finger |
Fused ring finger bones
|
0004197 |
| Symphalangism of the 5th finger |
Fused little finger bones
Fused pinkie finger bones
Fused pinky finger bones
[ more ] |
0004218 |
| 30%-79% of people have these symptoms | ||
| Absent distal interphalangeal creases | 0001032 | |
| Absent distal phalanges |
Absent outermost digital bones
|
0005807 |
|
Short fingers or toes
|
0001156 | |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
| Small hypothenar eminence | 0010487 | |
| Small thenar eminence | 0001245 | |
| Symphalangism affecting the phalanges of the toes |
Fused toe bones
|
0010179 |
| Toe |
Fused toes
Webbed toes
[ more ] |
0001770 |
| 5%-29% of people have these symptoms | ||
| Abnormal palmar dermatoglyphics | 0001018 | |
| Aplasia/Hypoplasia of the distal phalanx of the 5th toe |
Absent/small outermost little toe bone
Absent/small outermost pinkie toe bone
Absent/small outermost pinky toe bone
Absent/underdeveloped outermost pinky toe bone
[ more ] |
0100371 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
| Cutaneous syndactyly between fingers 2 and 5 | 0005650 | |
| Short distal phalanx of hallux |
Small outermost bone of big toe
|
0010103 |
| Percent of people who have these symptoms is not available through HPO | ||
| Absent dorsal skin creases over affected joints | 0001049 | |
| 0000006 | ||
| Clinodactyly of the 5th toe | 0001864 | |
| Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ] |
0010554 |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Proximal symphalangism of hands |
Fused innermost hinge joints
|
0006152 |
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 Symphalangism with multiple anomalies of hands and feet. Click on the link to view a sample search on this topic.