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 B


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Brachydactyly type B (BDB) is a condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails.[1] Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands.[2] There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant.[3][4][1] Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.[5]
Last updated: 7/24/2017

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
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HPO ID
80%-99% of people have these symptoms
2nd-5th toe middle phalangeal hypoplasia
Underdeveloped 2nd-5th middle toe bones
0008083
Absent fingernail 0001817
Aplasia/Hypoplasia of the distal phalanges of the hand
Absent/underdeveloped outermost finger bone of the hand
Absent/small outermost finger bone of the hand
[ more ] 		0009835
Short distal phalanx of finger
Short outermost finger bone
0009882
Short foot
Short feet
Small feet
[ more ] 		0001773
Short metacarpal
Shortened long bone of hand
0010049
Type B brachydactyly 0005831
30%-79% of people have these symptoms
Absent phalangeal crease 0006109
Aplasia/Hypoplasia of the distal phalanges of the toes
Absent/small outermost bones of toe
Absent/underdeveloped outermost bones of toe
[ more ] 		0010185
Aplasia/Hypoplasia of the middle phalanges of the hand
Absent/small middle finger bone of the hand
Absent/underdeveloped middle finger bone of the hand
[ more ] 		0009843
Aplasia/Hypoplasia of the middle phalanges of the toes
Absent/small middle bones of toe
Absent/underdeveloped middle bones of toe
[ more ] 		0010194
Aplasia/Hypoplasia of the nails
Absent/small nails
Absent/underdeveloped nails
[ more ] 		0008386
Cutaneous finger syndactyly
Webbed fingers
Webbed skin of fingers
[ more ] 		0010554
Cutaneous syndactyly of toes
Webbed skin of toes
0010621
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Tarsal synostosis
Fused ankle bones
0008368
5%-29% of people have these symptoms
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe
[ more ] 		0010059
Finger syndactyly 0006101
Hypermetropia
Farsightedness
Long-sightedness
[ more ] 		0000540
Sensorineural hearing impairment 0000407
Symphalangism affecting the phalanges of the hand
Fused finger bones of the hand
0009773
Synostosis of carpal bones
Fusion of wrist bones
0005048
1%-4% of people have these symptoms
Carpal synostosis 0009702
Distal symphalangism of hands
Fused outermost bones of hand
0001204
Proximal symphalangism of hands
Fused innermost hinge joints
0006152
Short 1st metacarpal
Shortened 1st long bone of hand
0010034
Percent of people who have these symptoms is not available through HPO
Anonychia
Absent nails
Aplastic nails
[ more ] 		0001798
Autosomal dominant inheritance 0000006
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Camptodactyly
Permanent flexion of the finger or toe
0012385
Delayed cranial suture closure 0000270
Delayed eruption of permanent teeth
Delayed eruption of adult teeth
0000696
Hemivertebrae
Missing part of vertebrae
0002937
Hypoplastic fingernail
Small fingernail
Underdeveloped fingernail
[ more ] 		0001804
Hypoplastic sacrum
Small sacrum
0004590
Joint contracture of the hand 0009473
Micropenis
Short penis
Small penis
[ more ] 		0000054
Short long bone
Long bone shortening
0003026
Short middle phalanx of finger
Short middle bone of finger
0005819
Syndactyly
Webbed fingers or toes
0001159
Thoracolumbar scoliosis 0002944
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Vertebral fusion
Spinal fusion
0002948
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
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Last updated: 7/1/2020
Brachydactyly type B is inherited in an autosomal dominant manner.[4][3] This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. There is nothing that either parent can do, before or during a pregnancy, to cause a child to have this condition.

In some cases, an affected person inherits the mutation from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
Last updated: 7/24/2017

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

  • 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. 
    Brachydactyly type B1 (BDB1)
    Brachydactyly type B2 (BDB2)
  • 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 B. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

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. Submit a new question

  • Can having a left foot that is missing the three middle toes and with two other underdeveloped toes be inherited? Can it be genetically transmitted?  See answer


  1. Huang D, Jiang S, Zhang Y, Liu X, Zhang J, He R. A new mutation in the gene ROR2 causes brachydactyly type B1. Gene. August 15, 2014; 547(1):106-110. https://www.ncbi.nlm.nih.gov/pubmed/24954533.
  2. Habib R, Amin-ud-din M, Ahmad W. A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. Clin Dysmorpho. April, 2013; 22(2):47-50. https://www.ncbi.nlm.nih.gov/pubmed/23238279.
  3. McKusick VA. BRACHYDACTYLY, TYPE B1; BDB1. OMIM. August, 2007; http://omim.org/entry/113000.
  4. McKusick VA. BRACHYDACTYLY, TYPE B2; BDB2. OMIM. August, 2007; https://www.omim.org/clinicalSynopsis/611377.
  5. Temtamy SA and Aglan MS. Brachydactyly. Orphanet J Rare Dis. 2008; 3:15. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441618/.