Brachydactyly type E
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Type E brachydactyly
Congenital and Genetic Diseases; Musculoskeletal Diseases
Isolated brachydactyly type E is caused by genetic changes (pathogenic variants or
The shortening of the bones in the hands and feet in people with brachydactyly type E may be noticed shortly after birth, however the difference often becomes more obvious as people get older. The number of metacarpals and metatarsals that are smaller than normal can range from a few of the bones to all of the bones, even within the same family. When the symptoms of a disorder vary even with the same genetic change, the disorder is said to have
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||
|80%-99% of people have these symptoms|
Shortened long bone of hand
|Type E brachydactyly||0005863|
|30%-79% of people have these symptoms|
Joints move beyond expected range of motion
|Short distal phalanx of finger||
Short outermost finger bone
Decreased body height
[ more ]
|5%-29% of people have these symptoms|
|Aplasia/Hypoplasia of the distal phalanx of the hallux||
Absent/small outermost big toe bone
Absent/underdeveloped outermost big toe bone
[ more ]
Increased size of skull
Large head circumference
[ more ]
Short long bone of foot
|Upper limb asymmetry||
Unequal size of arms
|Percent of people who have these symptoms is not available through HPO|
Short fingers or toes
|Moderately short stature||
Moderate short stature
|Multiple impacted teeth||
Round facial appearance
Round facial shape
[ more ]
When brachydactyly type E is isolated, meaning a person has shortened bones in the hands and feet but no other physical differences or related health problems, it may be caused by genetic changes (pathogenic variants or
It is thought that there may be other genes in which pathogenic variants cause isolated brachydactyly type E with or without
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.
- 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 E. Click on the link to view a sample search on this topic.
- Brachydactyly type E. Orphanet. October 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387.
- Brachydactyly, Type E1; BDE1. Online Mendelian Inheritance in Man. June 21, 2016; https://www.omim.org/entry/113300.
- Pereda A, Garin I, Spanish Network for Imprinting Disorders, and Perez de Nanclares G. What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis. BMC Medical Genetics. 2018; 19:32. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834905/.
- Page MM, Hooper AJ, Glendenning P, and Burnett JR. Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic. BMJ Case Reports. April 6, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28385908.
- Pereda A, Garin I, Garcia-Barcina M, Gener B, Beristain E, Ibañez AM, and Perez de Nanclares G. Brachydactyly E: isolated or as a feature of a syndrome. Orphanet Journal of Rare Diseases. 2013; 8:141. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848564/.
- Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil JF, Lacombe D, Mudlos S, Horn D, and Spielmann M. Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European Journal of Human Genetics. August 2016; 24(8):1132-1136. https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/26733284/.
- HOXD13 homeobox D13 [Homo sapiens (human)]. National Center for Biotechnology Information. April 8, 2018; https://www.ncbi.nlm.nih.gov/gene/3239.
- Fontana P, Tortora C, Petillo R, Malacarne M, Cavani S, Miniero M, D’Ambrosio P, De Brasi D, and Pisanti M. Brachydactyly type E in an Italian family with 6p25 trisomy. European Journal of Medical Genetics. March 2017; 60(3):195-199. https://www.ncbi.nlm.nih.gov/pubmed/28111183.
- Temtamy SA and Aglan MS. Brachydactyly. Orphanet J Rare Dis. 2008; 3:15. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441618/.