Brachydactyly Essay

Document Type:Thesis

Subject Area:Biology

Document 1

This particular abnormality is accredited to an early termination of the epiphysis at the base of the distal phalanx of the thumb (Mundlos, and Horn, 99). Brachydactyly Type D (BDD; OMIM 113200), is also recognized as 'stub thumb' or 'murderer's thumb. The type influences the distal phalanx of the initial digit (Brison, and Tylzanowski, 39). The influenced distal phalanx tends to be shorter and has a disgraceful considerably growth as compared to the normally generated bone (Mundlos, and Horn, 99). This is realized upon the inspection of radiographs or physical assessment of a person’s hand (Brison, and Tylzanowski, 39). The inherited malformations is featured through the shortening of digits because of the abnormal development of the phalanges as well as the metacarpals (Dai, et al. It is also characterized by broad short terminal phalanges of the big toes and thumbs. When a person is attacked by this condition, only the thumb is short, but other fingers are normal (Mundlos, and Horn, 99). This type of brachydactyly is located on the chromosome 2q31. Type of inheritance The mode of inheritance of the gene(s) is an AD or an autosomal dominant trait. This condition is mainly inherited (Zhou, et al. If a member of the family has a shortened finger or toe, it is highly possible for other members of the family to suffer from the same condition (Williams, et al. This means that several members of the same family can suffer from Brachydactyly Type D (BDD; OMIM 113200). Being an autosomal dominant condition means that the condition just affects a person if one parent has the gene because it is easily inherited.

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It has also been found that two dissimilar mutations in a specific gene play part in the condition (Mundlos, and Horn, 99). Being exposed to some medications might also lead to the generation of this condition, especially when taken during pregnancy (Dai, et al. The problems associated with blood flow to the feet and hand in a growing child may also cause the condition. Frequency of occurrence This type of brachydactyly is common (Mundlos, and Horn, 99). The Brachydactyly Type D (BDD; OMIM 113200) disease has signs that are apparent during birth, but as a person grows and develops, the shortened limbs tend to be more obvious (Brison, and Tylzanowski, 42). Its’ prevalence is different among the diverse populations and ranges from 0. Phenotype The symptoms of the disease, brachydactyly, type D, are a broad distal phalanx of the thumb and broad distal phalanx of the hallux (Brison, and Tylzanowski, 43).

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The major sign of this illness is having shorter thumbs than the normal size. The significant gene is linked with Brachydactyly, type D is HOXD13 or homeobox D13. Besides, the affiliated tissue is in the bone. The growth of the toes and thumb is normal (Dai, et al. The early closure of the epiphyses also leads to the short distal phalanx of the thumb, especially at the base. The HOXD13 is realized in individuals with Brachydactyly Type D (BDD; OMIM 113200) and they tend to experience some overlap phenotype between BDE and BDD (Mundlos, and Horn, 99). Furthermore, the involving mutations of HOXD13 cause BDD. The shortened thumbs might lead to a person having difficulty with grip (Zhou, et al. In the case of the Brachydactyly Type D (BDD; OMIM 113200) disease being severe, one is likely to experience hardships when doing manual work, especially if it attacks the two thumbs (Dai, et al.

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The problems with functionality only occur in the case of the condition being severe, whereby one finds it difficult to grip things in a normal way (Mundlos, and Horn, 99). In such cases, the doctor performs physical therapy for the improved motion, enhancing the functionality and strength of the affected thumb (Williams, et al. Moreover, surgery can be performed for the treatment of Brachydactyly Type D (BDD; OMIM 113200). This is where the doctor performs plastic surgery in the form of osteomy; the doctor cuts the affected bone for the enabled lengthening of the affected thumb (Mundlos, and Horn, 99). A surgery might be necessary immediately after birth if the nature of the affected thumb is easily identified (Zhou, et al. This disease is treated through surgery as well to assist in the lengthening of the affected thumb.

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It would be necessary if there is a solution to the problem whereby the prevalent families are given medications to prevent the inheritance of the disease in the future. Work cited Brison, Nathalie, Philippe Debeer, and PrzemkoTylzanowski. Joining the fingers: a HOXD13 Story. Developmental Dynamics 243. Advances in the molecular genetics of non-syndromic syndactyly. Current genomics 16. Guo, Hong, et al. Absence of nasal bone and brachydactyly: A probable new familial syndrome. Gene 527. American Journal of Human Biology 25. Zhou, Xiang, et al. A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family. Bone 57.

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