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Brachydactyly (Greek βραχί- = "short" plus δακτίλος = "finger") is a medical term which literally means "shortness of the fingers and toes" (digits). The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. Grays Anatomy illustration of a human femur. ...
The word dominant has several possible meanings: In music theory, the dominant or dominant note (second most important) of a key is that which is a perfect fifth above the tonic; in just intonation the note whose pitch is 1. ...
Dysmelia (from Greek ΔÏσ - = bad plus μÎλος (plural μÎλεα) = limb) is a congenital disorder referring to the limbs. ...
A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ...
In medicine, the term syndrome is the association of several clinically recognizable features, signs, symptoms, phenomena or characteristics which often occur together, so that the presence of one feature alerts the physician to the presence of the others. ...
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 ratio of the 3rd (middle) finger in cm to the hand length in cm. Both 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. A nomogram can be found in the Appendix of Jones, ed. Smith's Recognizable Patterns of Human Malformation, 5th edition, Philadelphia: Saunders (1997). A nomogram or nomograph is a graphical calculating device, a two-dimensional diagram designed to allow the approximate graphical computation of a function. ...
For a non-technical introduction to the topic, please see Introduction to genetics. ...
Brachydactyly Type A1 Brachydactyly type A1 is an autosomal dominant inherited disease. Features include: - It has been suggested that this article or section be merged into Dominance relationship. ...
The phalanges in a human hand Illustration of the phalalnges The name Phalanges is commonly given to the bones that form fingers and toes. ...
In human anatomy, the carpal bones are the bones of the human wrist. ...
Hypoplasia is an incomplete or arrested development of an organ or a part [1]. It is descriptive of many medical conditions such as: Underdeveloped breasts during puberty. ...
The ulna (Elbow Bone) [Figs. ...
The metacarpus is the intermediate part of the hand skeleton that is located between the fingers distally and the carpus which forms the connection to the forearm. ...
Brachydactyly Type A2 Type A2 is a very rare form of brachydactyly. The phalanges of the index fingers and second toes are shortened.
Other syndromes In the above brachydactyly syndromes, short digits are the most prominent of the anomalies, but in many other syndromes (Down's syndrome, Cushing syndrome, Rubinstein-Taybi syndrome, etc), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome. Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. ...
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