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Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2]
Causes Mutations in the fibrillin-2 gene, in chromosome 5q23, or the fibrillin-1 gene, at chromosome 15q21.1 Arachnodactyly (" spider fingers ") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot.
Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance. [citation needed]Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. [2]
The specific cause of camptodactyly remains unknown, but there are a few deficiencies that lead to the condition. A deficient lumbrical muscle controlling the flexion of the fingers, and abnormalities of the flexor and extensor tendons. [7] A number of congenital syndromes may also cause camptodactyly: Jacobsen syndrome; Beals syndrome [8] Blau ...
Nail clubbing, also known as digital clubbing or clubbing, is a deformity of the finger or toe nails associated with a number of diseases, anomalies and defects, some congenital, mostly of the heart and lungs.
Webbing between the second and third finger and between the second and third toes [2] Short fingers and toes (brachydactyly) [4] Broad thumb and/or a broad hallux (big toe) with a valgus deformity (outward angulation of the distal segment of a bone/joint) [6] Hands have a single palmar flexion crease [3]
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During the summer of 1963 Dr. Taybi reported having evaluated seven children with characteristics such as broad thumbs and great toes, "unusual" facial features, and intellectual disabilities – these findings went on to appear in the American Journal of Diseases of Children documenting these characteristics as a syndrome. Dr.