Genetic diseases



brachydactyly photo brachydactyly - is hypoplasia of the phalanges, which manifests itself in the shortening of the fingers on the hands and feet, resulting genetically determined defect, inherited.Manifestations of this anomaly is to reduce dlinnika feet and hands, korotkopalost, hypoplastic nail plates, and in some cases syndactyly.As a diagnostic activities to the forefront of DNA-ray diagnostics and imaging bone and as effective therapeutic measures should only be considered a surgical way to eliminate the defect.It should be noted that the emergence of brachydactyly possible not only in reducing the size of the individual phalanges, but also because of their complete lack.

reasons brachydactyly

This pathology is different enough high rate of morbidity in the general structure of the genetic defect, and this fact is explained by the dominant type of transmission of the defective gene, ie,for the development of the child brachydactyly enough to one of the parents was a carrier of the defe

ctive gene.Brachydactyly incidence in the general structure of hereditary anomalies of hands and feet is about 24%.

In the era of the development of diagnostic technologies and genetic engineering techniques, the conditions for early prenatal diagnosis of brachydactyly triplex method of three-dimensional ultrasound in pregnancy.

still not developed drugs for use etiotropic empirical treatment, but now spends a lot of research on this issue.Medical and genetic counseling of the family, which includes at least one member suffering from this type of anomaly, provides for mandatory geneticist warning about the risk of birth of a baby with brachydactyly.The category of persons subject to a genetic counseling in the first place are the parents whose baby was born with brachydactyly, both men, the man who wants to start a family with a sick brachydactyly, and families whose parents suffer from this anomaly.

Symptoms brachydactyly

In a situation where brachydactyly is an isolated malformation, the clinical manifestations of the child will be minimal and should be regarded as a purely cosmetic defect.However, it should be noted that in most cases this pathology appears as a manifestation of the syndrome and coarser congenital genetic diseases.

most common congenital disorders in which brachydactyly develops along with other vices, is Down syndrome.With this genetic anomaly brachydactyly addition, the child shows any other phenotypic traits (epicanthus, brachycephalic skull type, funnel chest, shortening of the neck).

brachydactyly syndrome when combined with Poland's amazia and strain of ribs and disease Aarskogo Scott of the child at the same time korotkopalostyu signs of phimosis, mental retardation and joint laxity.

In a situation where brachydactyly a child combined with the presence of choanal atresia, hypoplastic frontal sinuses, short stature and signs of secondary hypothyroidism, and in some cases, mental retardation should be suspected in the patient syndrome median cleft facial skull.

If a child is marked brachydactyly no signs of adhesions phalanges or polydactyly, in most cases, this anomaly does not limit the function of the hand or foot.When more severe malformations of phalanges may experience dysfunction of the interphalangeal, metatarsophalangeal joints, which greatly complicates the support and motor function.Moreover, in most cases it is combined with brachydactyly dysplastic lesion affected finger nail plate, which is not aesthetic appearance and requires correction.Shortened fingers have an unusual configuration due to a flattening and splitting phalanges.

should distinguish such special variants brachydactyly as ectrodactyly at which marked hypoplasia exclusively distal phalanges in the preservation of normal bone structure metacarpals and adactylia, which is the most severe form of korotkopalosti, since this disease shortening brush is caused by the total absenceone or more phalanges.

types of brachydactyly

To distinguish all the options bony anomalies of phalanges in the trauma and orthopedic circles to classify brachydactyly on clinical types.A

brachydactyly accompanied by a shortening of the middle finger phalanges deviation and dysplastic changes of nail plates.These changes may occur in the various embodiments of gravity, so decided to share brachydactyly type A five clinical variants.

Farabi type, or the type A1 involves changing all phalanges of the middle finger as a rudimentary structure in combination with the shortening of the proximal phalanx of the great toes and hands, as well as the overall growth retardation.

type Mora Brita or type A2 manifested by the presence of the middle finger phalanges Obey brushes, but significant shortening them.A notable fact is that the safety of the normal development of the rest of the phalanges of the hands and feet.In addition to the shortening of the phalanges of the middle finger, a change in their shape to the side diamond with concomitant radial deviation.A variant of this type is brachydactyly, combined with klinodiktiliey fifth finger.

clinodactyly of the fifth finger, or type A3 is shortening and radial deviation exclusively middle phalanges of the fifth fingers on both hands.

When Temtami type, or the type of the A4 there is a shortening of the second and fifth fingers of both hands due to the underdevelopment of the middle phalanx.With the localization of lesions on the feet, there valgus-heel clubfoot.

Type A5 is accompanied by a marked shortening of the second and fifth fingers on the hands, due to the complete absence of the middle phalanx, combined with dysplasia nail phalanges.

principal difference brachydactyly type B is that a child is different malformation of nail phalanges with concomitant syndactyly of the second and third finger.Typical for this type of brachydactyly is the simultaneous defeat of the hands and feet.The above changes are accompanied by bone abnormalities of the spine, skull and teeth.

brachydactyly type C is a severe congenital defect in which in addition to shortening the proximal phalanx marked hypoplasia metacarpals and phalanges fusion between them.Children suffering from this disorder, characterized by short stature, and in some cases even mental retardation.

brachydactyly type D has a second name "brachydactyly thumb" and is the most frequent abnormality of phalangeal bones.It is noteworthy that this type of hypoplasia of the phalanges of the first finger is observed with the same frequency as the upper and the lower extremities.

Type E is a rare disease in which the shortening of the hand or foot is not developing as a result of the bone defect of the phalanges, and as a consequence of underdevelopment isolated metacarpals.In addition, the phenotypic manifestations of this anomaly is symmetrical hypoplasia of the clavicles.

Treatment brachydactyly

Due to the fact that brachydactyly is an anomaly of the bone tissue with the typical localization in the projection of the phalanges of the hands and feet, the only effective method for the correction of these changes is surgical.Conservative techniques is the use of physical therapy manipulation should be considered as adjunctive therapy in the postoperative period, as well as preventive in preventing the development of secondary deforming arthrosis of small joints of the feet and hands.

surgical techniques can not only eliminate the existing interphalangeal fusion, but also increase the linear dimensions of the hands and feet.As the operational benefits of lengthening the size of the hand or foot is used autologous, pollitsizatsiya and distraction.By eliminating the interphalangeal adhesions is performed not only bone, but the tendon-muscle and skin plastic.

The use of surgical treatment at brachydactyly acceptable only in order to eliminate violations of motor function of limbs and less to correct a cosmetic defect.

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