Brachydactyly type E | About the Disease | GARD - Genetic and …
Brachydactyly type E can be diagnosed if a doctor notices very flexible joints of the hands and shortening of the bones in the hands or feet. Genetic testing may be used to rule out genetic syndromes associated with brachydactyly.
Brachydactyly Types - Causes & Outlook - Cleveland Clinic
Aug 30, 2022 · Brachydactyly (brack-ee-dack-til-ee) means “short digits” and is a general term to identify fingers and toes that are shorter than normal. Brachydactyly is a genetic condition, and it happens because of a gene mutation that affects bone growth.
Brachydactyly E: isolated or as a feature of a syndrome
Sep 12, 2013 · In this review, we focus on brachydactyly type E (BDE, OMIM#113300), which is rare and can be diagnosed as an isolated finding or as part of several genetic syndromes [1, 5, 6].
Brachydactyly - PMC - National Center for Biotechnology …
Jun 13, 2008 · As an isolated anomaly, type E brachydactyly is inherited as an autosomal dominant trait with variable expressivity and variable involvement of the metacarpals and/or metatarsals, with frequent bilateral asymmetry.
Orphanet: Brachydactyly type E
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
Brachydactyly type E - Genetic and Rare Diseases Information …
Building a team of providers to help you get the right diagnosis is an important early step in your rare disease journey. Providers on your diagnostic team may have advanced medical training in different body systems or types of diseases, which helps them to provide diagnostic procedures in their area of expertise.
brachydactyly type E - National Organization for Rare Disorders
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
Brachydactyly (Short Fingers or Short Toes) - Johns Hopkins …
Brachydactyly type E causes a short, clubbed thumb and a short, big toe. It affects the growth of bones in the hands (metacarpals) and feet (metatarsals). These bones connect to the digits.
Brachydactyly - Wikipedia
Brachydactyly (from Greek βραχύς (brachus) 'short' and δάκτυλος (daktulos) 'finger') is a medical term denoting the presence of abnormally short digits (fingers or toes) at birth. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait.
Brachydactyly type E - NIH Genetic Testing Registry (GTR) - NCBI
Brachydactyly type E comprises one or more shortened metacarpals and metatarsals (summary by Johnson et al., 2003). Another form of brachydactyly type E, BDE2 (613382), is caused by heterozygous mutation in the PTHLH gene (168470) on chromosome 12p11.