Brakhidaktiliya – the hereditary defect which is characterized by an underdevelopment of phalanxes and shortening of fingers on hands or legs. The korotkopalost, shortening of the size of a brush or foot, a hypoplasia of nail plates, often a rigidnost of joints is signs of a brakhidaktiliya (simfalangiya), a sindaktiliya, a polidaktiliya. Inspection of the patient with a brakhidaktiliya includes consultation of the geneticist, DNA diagnostics, a X-ray analysis of brushes and feet. Treatment of a brakhidaktiliya includes division and lengthening of fingers, LFK and massage.
Brakhidaktiliya (gipofalangiya, mikrodaktiliya) – a korotkopalost, the congenital anomaly of extremities which is expressed available at the child of short fingers owing to shortening or lack of separate phalanxes. Brakhidaktiliya is the prepotent inherited sign, i.e. for manifestation of anomaly at the child the gene of a brakhidaktiliya has to be inherited from one of parents. In the absence of other anomalies people with a brakhidaktiliya can lead usual, normal life, however the korotkopalost imposes restrictions for the professional choice. Brakhidaktiliya with an identical frequency occurs among representatives of both floors; prevalence in population - 1,5:100 000.
Classification of a brakhidaktiliya
In traumatology and orthopedics distinguish several types of a brakhidaktiliya.
Brakhidaktiliya of type A is characterized by shortening of average phalanxes of fingers, a radial curvature of phalanxes, a dysplasia of nail plates.
At a brakhidaktiliya of the A1 type (type of Farabi) the rudimentary structure of average phalanxes, sometimes – their merge to trailer phalanxes is noted. Shortening of proximal phalanxes of the first fingers of brushes and feet, a growth inhibition takes place.
For a brakhidaktiliya of the A2 type (a brakhimezofalangiya, type Mora-Brita) shortening of average phalanxes of the second fingers of brushes and feet is peculiar; at the same time other fingers concerning a sokhranna. Average phalanxes of the second fingers have the triangular or diamond-shaped shape and a radial deviation.
At a brakhidaktiliya of the A3 type (a brakhimezofalangiya of the V finger, a klinodaktiliya) shortening and a radial curvature of average phalanxes of the fifth fingers of brushes is observed.
The A4 type (a brakhimezofalangiya II and V fingers, to Temtami's type) damage of average phalanxes of the second and fifth fingers of a brush is inherent in Brakhidaktiliya.
At a brakhidaktiliya of the A5 type there are no average phalanxes of the second or fifth fingers and there is a dysplasia of nails.
Brakhidaktiliya of type B is characterized not only by reduction of length of average phalanxes, but also an underdevelopment or total absence of disteel (trailer) phalanxes and a sindaktiliya (union) of the second and third fingers.
Brakhidaktiliya of type C differs in shortening of proximal and average phalanxes of the second and third fingers. This type of a brakhidaktiliya often is followed by a simfalangiya (an union of phalanxes), shortening of pyastny bones. It can be combined with low-tallness and intellectual backwardness.
Brakhidaktiliya of type D (brakhimegalodaktiliya) is diagnosed when shortening the first fingers of brushes and feet.
Brakhidaktiliya of type E is characterized by shortening of pyastny and plusnevy bones (bones of a brush and foot).
Most often in clinical practice the brakhidaktiliya of the A3 and D types meets.
Brakhidaktiliya can be the isolated congenital anomaly, however in certain cases the korotkopalost accompanies other congenital syndromes. So, at a Down syndrome, along with a brakhidaktiliya, there are following characteristic signs: brakhitsefaliya, short neck, , cataract, anomalies of tooth alignments, furrowed language, congenital heart diseases, squint, deformation of a thorax (funneled or keeled), etc.
Are the minimum diagnostic signs of a syndrome of Beymond a brakhidaktiliya, , a cerebellar ataxy. At Poland's syndrome there are no big and mayoly pectoral muscles; the brakhidaktiliya, a sindaktiliya, an aplaziya of nipples or an amastiya, deformation of edges, etc. takes place.
The syndrome of a median crevice of the person is characterized by a mikrogeniya, an atresia Joán, a hypoplasia of frontal bosoms, a brakhidaktiliya, a hypophysial nanizm, a secondary hypothyroidism, a bilateral kriptorkhizm, a penis curvature, an oligofreniya and so forth.
At Aarskoga-Scott's syndrome, except a brakhidaktiliya, the gipertelorizm, low-tallness, looseness of joints, a sindaktiliya, a shalevidny scrotum, , a kriptorkhizm, inguinal hernias, intellectual backwardness takes place.
Actually the brakhidaktiliya is followed by pathological shortening of fingers of hands and legs, sometimes – their flattened form or splitting. Depending on weight of pathology, the brakhidaktiliya can be combined with rigidity in joints (simfalangiy), sindaktiliy, polidaktiliy, muscular weakness, in a complex breaking normal functioning of a brush or foot. At a brakhidaktiliya the hypoplasia or an aplaziya of nail plates is often observed.
The ektrodaktiliya and adaktiliya belong to special cases of a brakhidaktiliya. At an ektrodaktiliya the underdevelopment of disteel (nail) phalanxes is observed; in hard cases – lack of nail and average phalanxes. Development of pyastny bones does not suffer. At an adaktiliya congenital lack of phalanxes of fingers with partial or full preservation of pyastny bones takes place.
Diagnostics of a brakhidaktiliya
Brakhidaktiliya can be diagnosed for the child in the prenatal or post-natal period. Prenatal diagnostics can include consultation of the geneticist (in the presence of the family anamnesis of a brakhidaktiliya) and 3D ultrasonography which is carried out in the period of conducting pregnancy on gestational term 20-24 weeks. Identification of the isolated brakhidaktiliya is not the basis for abortion; at detection of chromosomal syndromes the issue is resolved in an individual order.
After the birth the diagnosis of a brakhidaktiliya is established by the children's traumatologist-orthopedist on the basis of clinical inspection and radiological data (a X-ray analysis of fingers of a brush, bones of a brush, fingers of foot, foot bones). Results of DNA diagnostics have crucial importance.
Treatment of a brakhidaktiliya
In treatment of a brakhidaktiliya both conservative, and surgical methods are used. In some cases for restoration of function of a brush or foot carrying out courses LFK and massage is sufficient. It allows to improve operation of the musculocopular device and to avoid restriction of physical activity.
As the purpose of surgical correction of a brakhidaktiliya serves change of the linear sizes of a brush, elimination of the accompanying simfalangiya and sindaktiliya. For the purpose of correction of the linear sizes of fingers distraction, a pollitsization, microsurgical autotransplantation of a finger of foot on a brush can be carried out. Operation at a sindaktiliya assumes division of accrete fingers with skin, tendinous and muscular or bone plasticity. Expeditious treatment of a brakhidaktiliya is directed, first of all, to the maximum restoration of function of a brush and again – to achievement of the acceptable esthetic result.
Prevention of a brakhidaktiliya
Specific prevention is not developed in view of the fact that the brakhidaktiliya is genetically caused, inherited anomaly.
Scheduled maintenance provides carrying out medico-genetic consultation of families with the burdened heredity for determination of probability of the birth of the child at them with a brakhidaktiliya; exception of related marriages.