Rare Rheumatology News

Disease Profile

Brachydactyly type B

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

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

rnn-autosomaldominant.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

Not applicable

no.svg

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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]

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
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 skin of fingers
Webbed 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

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. 
    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.

References

  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; https://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/.

Rare Rheumatology News