Brachydactyly (Greek βραχύς 'short' plus δάκτυλος 'finger') is a medical term which literally means 'short finger'. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. Brachydactyly may also be a signal that one is at risk for congenital heart disease[1] due to the association between congenital heart disease and Carpenter syndrome and the link between Carpenter syndrome and brachydactyly.[2]
Nomograms for normal values of finger length as a ratio to other body measurements have been published. In clinical genetics, the most commonly used index of digit length is the dimensionless ratio of the length of the third (middle) finger to the hand length. Both are expressed in the same units (centimeters, for example) and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist.
^Pierpont, Mary Ella; Brueckner, Martina; Chung, Wendy K.; Garg, Vidu; Lacro, Ronald V.; McGuire, Amy L.; Mital, Seema; Priest, James R.; Pu, William T.; Roberts, Amy; Ware, Stephanie M.; Gelb, Bruce D.; Russell, Mark W. (2018-11-20). "Genetic Basis for Congenital Heart Disease: Revisited". Circulation. 138 (21): e653–e711. doi:10.1161/CIR.0000000000000606. ISSN 0009-7322. PMC 6555769. PMID 30571578.
^Jenkins, Dagan; Seelow, Dominik; Jehee, Fernanda S.; Perlyn, Chad A.; Alonso, Luís G.; Bueno, Daniela F.; Donnai, Dian; Josifiova, Dragana; Mathijssen, Irene M. J.; Morton, Jenny E. V.; Helene Ørstavik, Karen; Sweeney, Elizabeth; Wall, Steven A.; Marsh, Jeffrey L.; Nürnberg, Peter (2007-06-01). "RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity". The American Journal of Human Genetics. 80 (6): 1162–1170. doi:10.1086/518047. ISSN 0002-9297. PMC 1867103. PMID 17503333.
types of isolated brachydactyly have different symptoms and they are grouped according to what areas they affect. Isolated brachydactyly does not affect...
Brachydactyly type D, also known as short thumb, stub thumb, or clubbed thumb, is a genetic trait clinically recognised by a thumb being relatively short...
Hypertension and brachydactyly syndrome (HTNB), also known as Bilginturan syndrome and brachydactyly type E among others, is a very rare genetic disorder...
condition include: Brachydactyly of the hands and feet with duplication of the first toes, Sugarman brachydactyly and Brachydactyly with major proximal...
Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and intellectual disability. The family...
Du Pan syndrome, also known as fibular aplasia-complex brachydactyly syndrome, is an extremely rare genetic condition. Unlike other rare genetic conditions...
syndrome, cartilage–hair hypoplasia, pycnodysostosis, acrodysostosis, and brachydactyly type D. Acquired racquet nail is associated with acroosteolysis and...
He studied tap dance and became a drummer, despite being born with brachydactyly caused by Poland syndrome, which made three fingers on his left hand...
ear infections, and abnormalities in face, hands, and feet such as brachydactyly. Autism-like symptoms consist of odd obsessions, repetitive behavior...
normal. This condition is one of the most common non-syndromic causes of brachydactyly and clinodactyly. This condition is caused by either fusion or early...
with brachydactyly type B. Because the disorder primarily affected the nails and distal phalanges, the research group concluded that brachydactyly type...
of the bony components of the elbow Abnormal shape of carpal bones Brachydactyly, a symptom where the fingers and toes are shorter than normal. People...
cartilage growth. This same gene is involved in causing autosomal dominant brachydactyly B. The autosomal dominant form has been linked to three genes – WNT5A...
Metaphyseal dysplasia, or Pyle disease, is a disorder of the bones. It is a rare disease in which the outer part of the shafts of long bones is thinner...
Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding. Flat feet are very...
(pollex varus and hallux varus). Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the...
(brachydactyly). Among the 1259 larvae, 102 were malformed, with 94 (92%) of the malformations involving ectrodactyly, polyphalangy, and brachydactyly...
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