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Disease Profile

Brachydactyly type C

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.

Unknown

Age of onset

Infancy

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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

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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)

BDC; Brachydactyly Haws type

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.[1][2]

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 brachydactyly
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 duplication of distal phalanx of the thumb
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
Short stature
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
Autosomal dominant inheritance
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
Polydactyly
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

  1. Samia A Temtamy and Mona S Aglan. Brachydactyly. Orphanet Journal of Rare Diseases. 2008; 3(15):https://www.ojrd.com/content/3/1/15.
  2. 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.