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Disease Profile
Brachydactyly type B
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.
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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.
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
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 | ||
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 |
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 |
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 |
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 |
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 |
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
- 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.
- 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.
- McKusick VA. BRACHYDACTYLY, TYPE B1; BDB1. OMIM. August, 2007; https://omim.org/entry/113000.
- McKusick VA. BRACHYDACTYLY, TYPE B2; BDB2. OMIM. August, 2007; https://www.omim.org/clinicalSynopsis/611377.
- Temtamy SA and Aglan MS. Brachydactyly. Orphanet J Rare Dis. 2008; 3:15. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441618/.
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