Hereditary diseases of the skeleton
human skeleton is a highly connective tissue exposed to severe hereditary diseases.It is genetically determined disorder in which the affected bone and cartilage.Hereditary skeletal diseases account for more than half of congenital diseases and malformations in children.Most of the diseases of the locomotor system in varying degrees, are hereditary.
hereditary skeletal diseases can be divided into the chromosome and gene.Most chromosomal disease is accompanied by severe multiple malformations of the skeleton (Down syndrome, Edwards, Turner, Klinefelter, Patau).Gene skeletal disease may manifest at birth (achondroplasia, diastrophic dysplasia, congenital clubfoot), or a little later, when the child is born without visible bony abnormalities and disease develops gradually, and the first symptoms can be seen later on in life.In addition, there are a number of diseases that occur from the moment of birth, but the appearance of a child is very different from the typical pattern of the disease, which develops
Among hereditary diseases of the musculoskeletal system, special place is occupied by hereditary systemic skeletal disease.This severe category of hereditary diseases is a large group.Hereditary systemic disease of the skeleton are generalized (widespread) disease of the connective tissue, and therefore in the pathological process may be involved bone, tendons, ligaments, eyes, inner ear and internal organs, t. E. All the organs in which the connective tissue is present.However, the leading feature of these diseases is still a loss of bone and cartilage, resulting in violation of osteoarticular apparatus child growth and development.Many forms of hereditary systemic skeletal disease accompanied by disproportionate dwarfism: a marked shortening of the limbs, or shortening of growth by a primary lesion of the spine.Part of hereditary systemic skeletal disease may manifest at birth.In this case, they are a form leading to the death of a child before or shortly after birth.However, some forms still are compatible with life (achondroplasia, diastrophic dysplasia, metatropicheskaya dysplasia, dysplasia Knista, congenital spondee-epiphyseal dysplasia), but lead to severe deformities.A significant part of the system of hereditary skeletal diseases manifest only later in life, mainly in the 3-6 years of age.All hereditary systemic skeletal disease characterized by continuously progressive course, and expressed a variety of manifestations.Hereditary systemic skeletal disease can be transmitted in an autosomal dominant, autosomal recessive or X-linked types of inheritance.Some forms of hereditary systemic skeletal disease with the same symptoms can be transmitted in several types of inheritance.Currently, over 150 described various forms of hereditary systemic skeletal diseases.All of them are rare, but extremely severe disease.Hereditary systemic skeletal diseases represent one of the most difficult groups of orthopedic diseases.Despite the relative rarity, they cause significant damage to the family and society, leading patients to early and severe disability.In general hereditary systemic skeletal disease remains poorly understood.The essential reasons for this are a rarity of these diseases and the significant diversity of their manifestations.
All hereditary skeletal diseases can be divided into three groups, depending on the bone area where the infringement begins its formation.The bones are the following parts: the epiphysis, metaphysis and diaphysis.It represents the average diaphysis of the bone;epiphysis - bone ends are covered with articular cartilage;metaphysis - bone portion located between the epiphysis and diaphysis.Accordingly, the said portion of bone dysplasia is divided into epiphyseal, metaphyseal and diaphyseal.The most typical representatives of epiphyseal dysplasia are spondee-epiphyseal dysplasia and multiple epiphyseal dysplasia.