Brachydactyly - causes, symptoms, diagnosis and treatment

Brachydactyly - A hereditary defect, characterized by hypoplasia of the phalanges and the shortening of the fingers on the hands or feet. Signs brachydactyly is korotkopalost, shortening the brush size or feet, hypoplasia of the nail plate, often stiff joints (simfalangiya), syndactyly, polydactyly. Examination of the patient with brachydactyly involves consultation genetics, DNA diagnostics, X-rays of the hands and feet. Treatment involves brachydactyly division and elongation fingers, exercise and massage.

  • Classification brachydactyly
  • Symptoms brachydactyly
  • Diagnosis brachydactyly
  • Treatment brachydactyly
  • Prevention brachydactyly
  • Brachydactyly - treatment

  • Brachydactyly


    congenital limb anomaly, which is expressed in the presence of the child's short fingers due to shortening or absence of certain phalanges. Brachydactyly is dominant heritable trait t. E. For the manifestation of the anomaly in a child brachydactyly gene must be inherited from one parent. In the absence of other anomalies with brachydactyly people can live a normal, a normal life, but korotkopalost imposes restrictions on professional choice. Brachydactyly with the same frequency is found in both sexes; the prevalence in the population - 1.5: 100000.

    traumatology and orthopedics are several types of brachydactyly.

    Brachydactyly type A characterized by shortening of the middle phalanges, the radial curvature of the phalanges, dysplasia of the nail plate.

    If brachydactyly type A1 (type Farabi) marked a rudimentary structure of the middle phalanges, sometimes - their fusion with the terminal phalanges. There is a shortening of the proximal phalanges of the first fingers and toes, growth retardation.

    For brachydactyly type A2 (brahimezofalangii such as Mora Brita) tend to shortening of the middle phalanges of second fingers and toes; while the other fingers are relatively preserved. Middle phalanx of the second finger has a triangular or diamond shape and radial deviation.

    If brachydactyly type A3 (V brahimezofalangii finger clinodactyly) observed shortening and radial curvature of the middle phalanges of fingers fifth.

    Brachydactyly type A4 (brahimezofalangii II and V fingers type Temtami) inherent loss middle phalanges of the second and fifth fingers.

    When A5 type of brachydactyly absent middle phalanges of second-fifths of the fingers and fingernails has dysplasia.

    Brachydactyly type B It characterized not only by a decrease in the length of the middle phalanges, but also underdeveloped or no distal (end) of the phalanges and syndactyly (coalescence) of the second and third fingers.

    Brachydactyly type C characterized by shortening of the proximal and middle phalanges of the second and third fingers. This type of brachydactyly often accompanied simfalangiey (coalescence phalanges), shortening of metacarpals. It can be combined with short stature, and mental retardation.

    Brachydactyly type D (Brahimegalodaktiliya) diagnosed with early shortening of fingers and toes.

    Brachydactyly type E characterized by shortening of the metacarpal and metatarsal bones (the bones of hands and feet).

    The most commonly encountered in clinical practice brachydactyly type A3 and D.

    Down's syndrome, along with brachydactyly, has the following characteristic features: brachycephaly, short neck, epicanthus, cataracts, abnormal dentition, furrowed tongue, congenital heart disease, strabismus, chest deformity (funnel or keeled) and other
    .
    Minimum diagnostic features Beymonda syndrome are brachydactyly, nystagmus, cerebellar ataxia. When Poland's syndrome are no major and minor pectoral muscles; It holds brachydactyly, syndactyly, aplasia or nipples amazia, deformation ribs, etc

    median cleft face syndrome is characterized microgeny, choanal atresia, hypoplasia of the frontal sinuses, brachydactyly, pituitary dwarfism, secondary hypothyroidism, bilateral cryptorchidism, the curvature of the penis, mental retardation and others.

    The syndrome Aarskoga Scott but brachydactyly, there is hypertelorism, short stature, joint laxity, syndactyly, shalevidnaya scrotum, phimosis, cryptorchidism, inguinal hernia, mental retardation.

    Actually brachydactyly accompanied by abnormal shortening of the fingers and toes, and sometimes - their flattened shape or splitting. Depending on the severity of the disease, brachydactyly can be combined with stiffness in the joints (simfalangiey), syndactyly, polydactyly, muscle weakness, in conjunction violate the normal functioning of the hand or foot. If brachydactyly frequently observed hypoplasia or aplasia of the nail plate.

    For special cases and brachydactyly are ectrodactyly adactylia. When ectrodactyly observed hypoplasia of the distal (nail) phalanges; in severe cases - the lack of nail and middle phalanges. Development of the metacarpal bones does not suffer. When adactylism there is congenital absence of the phalanges with partial or complete preservation of the metacarpal bones.

    genetics consultation (in the presence of family history of brachydactyly) and 3D ultrasound, carried out in the period of pregnancy with gestational age of 20-24 weeks. Identification of isolated brachydactyly is not grounds for abortion; upon detection of chromosomal syndromes problem is solved individually.

    After birth, the diagnosis of brachydactyly set children traumatologist on the basis of clinical examination and X-ray data (X-ray of the fingers, hand bones, toe, foot bones). Crucial are the results of DNA diagnostics.

    Physical therapy and massage. This allows you to improve the performance of the musculo-ligamentous apparatus and to avoid limitations of physical activity.

    The aim of surgical correction of brachydactyly is a linear change brush sizes, elimination of concomitant simfalangii and syndactyly. To correct the distraction may be performed linear finger sizes pollitsizatsiya, microsurgical autotransplantation toe on the brush. Operation with syndactyly involves the separation of conjoined fingers with skin, tendon, muscle, or bone grafting. Surgical treatment of brachydactyly aimed primarily at maximizing recovery of hand function and the second - to achieve an acceptable aesthetic result.

    Prevention brachydactyly



    Specific preventive maintenance is not developed because the brachydactyly is genetically determined, inherited anomaly.

    Preventive work provides for genetic counseling of families with family history to determine the probability of the birth of their child with brachydactyly; exclusion of consanguineous marriages.