Rare Nephrology News
Disease Profile
Brachydactyly type C
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.
Unknown
Age of onset
Infancy
ICD-10
Q73.8
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)
BDC; Brachydactyly Haws type
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
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 | ||
| Aplasia/Hypoplasia of the 1st metacarpal |
Absent/small 1st long bone of hand
Absent/underdeveloped 1st long bone of hand
[ more ] |
0010026 |
| Cone-shaped epiphyses of the middle phalanges of the hand |
Cone-shaped end part of the middle hand bones
|
0010259 |
| Pseudoepiphyses of the 2nd finger | 0009495 | |
| Pseudoepiphyses of the 3rd finger | 0009417 | |
| Short 2nd finger |
Short index finger
Short index fingers
[ more ] |
0009536 |
| Short 3rd finger |
Short middle finger
|
0009461 |
| Short middle phalanx of finger |
Short middle bone of finger
|
0005819 |
| Type C |
0009373 | |
| Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
| 30%-79% of people have these symptoms | ||
| Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Complete |
Complete duplication of outermost bone of the thumb
|
0009606 |
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
| Enlarged epiphysis of the middle phalanx of the 2nd finger |
Enlarged end part of the middle bone of the index finger
|
0009516 |
| Enlarged epiphysis of the middle phalanx of the 3rd finger |
Enlarged end part of the middle bone of the middle finger
|
0009324 |
| Enlarged epiphysis of the proximal phalanx of the 2nd finger |
Enlarged end part of innermost long bone of index finger
|
0009527 |
| Enlarged epiphysis of the proximal phalanx of the 3rd finger |
Enlarged end part of innermost long bone of the middle finger
|
0009349 |
| Short 1st metacarpal |
Shortened 1st long bone of hand
|
0010034 |
| Short metatarsal |
Short long bone of foot
|
0010743 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Stippling of the epiphysis of the distal phalanx of the thumb |
Speckled calcifications in the end part of the outermost thumb bone
|
0009684 |
| Triangular epiphysis of the middle phalanx of the 2nd finger |
Triangular end part of the middle bone of the index finger
|
0009523 |
| Triangular epiphysis of the middle phalanx of the 3rd finger |
Triangular end part of the middle bone of the middle finger
|
0009331 |
| Triangular epiphysis of the proximal phalanx of the 2nd finger |
Triangular end part of innermost long bone of index finger
|
0009534 |
| Triangular epiphysis of the proximal phalanx of the 3rd finger |
Triangular end part of innermost long bone of the middle finger
|
0009356 |
| Triangular shaped middle phalanx of the 2nd finger |
Triangular shaped middle bone of index finger
|
0009575 |
| Triangular shaped middle phalanx of the 3rd finger |
Triangular shaped middle bone of the middle finger
|
0009436 |
| Triangular shaped proximal phalanx of the 2nd finger |
Triangular shaped innermost bone of index finger
|
0009587 |
| Triangular shaped proximal phalanx of the 3rd finger |
Triangular shaped innermost bone of middle finger
|
0009456 |
| Ulnar deviation of the 2nd finger | 0009464 | |
| Ulnar deviation of the 3rd finger | 0009463 | |
| 5%-29% of people have these symptoms | ||
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| Metatarsus valgus | 0010508 | |
| Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
| Talipes equinovalgus | 0001772 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Brachydactyly |
Short fingers or toes
|
0001156 |
| Hypersegmentation of proximal phalanx of second finger | 0006206 | |
| Hypersegmentation of proximal phalanx of third finger | 0011929 | |
| Madelung deformity | 0003067 | |
|
More than five fingers or toes on hands or feet
|
0010442 | |
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.
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 Brachydactyly type C. Click on the link to view a sample search on this topic.
References
- Samia A Temtamy and Mona S Aglan. Brachydactyly. Orphanet Journal of Rare Diseases. 2008; 3(15):https://www.ojrd.com/content/3/1/15.
- Al-Qattan MM, Al-Motairi MI, Al Balwi MA. Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. Am J Med Genet A. July 2015; 167(7):1621-1626.