National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Brachydactyly type C


Other Names:
BDC; Brachydactyly Haws type
Categories:
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]
Last updated: 11/4/2015

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.

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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
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Last updated: 7/1/2020

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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Brachydactyly type C. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The University of California San Francisco Limb Study is researching the genetic causes of limb malformations. They are looking for participants who only have problems with their limbs, such as fused or webbed fingers/toes, more than 5 fingers/toes, less than 5 fingers/toes, split hand and foot also called ectrodactyly, short fingers/toes, bent pinky fingers, extra long fingers, flexed fingers, club foot, etc. Visit the study’s website to learn more about who is eligible to take part in this study.

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Samia A Temtamy and Mona S Aglan. Brachydactyly. Orphanet Journal of Rare Diseases. 2008; 3(15):http://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.