Acrocephalopolysyndactyly Type Ii

Acrocephaly and syndactyly as a disease

Acrocephaly is a congenital malformation in which the skull anomaly is characterized by a retardation of the skull from normal development. This defect occurs due to premature closure of the sutures, which leads to deformation of the child’s head. The most common form of acrocephaly is the carnotic form, which occurs when the coronal portion of the skull develops abnormally. In addition to acrocephaly, patients also experience syndactyly, which is the fusion of the fingers. This defect is caused by changes in the number and type of genes, as well as the levels of hormones that regulate their development.

There are several reasons for the development of acrocephaly. However, they are associated with heredity, such as an inherited mutation in the SHH gene or the NFIX gene. A high level of maternal antibodies during pregnancy may become a risk factor for the development of this syndrome. It is also known that the levels of a number of certain hormones can affect the development of a child's skull. These include human chorionic gonadotropin (hCG), which is produced in the womb and is present in the amniotic fluid. In some cases, acrocephaly can be cured surgically if the symptoms are not severe. Treatment of acrocephaly includes symptom control and the possibility of correcting movement disorders. Recently, more and more treatment options have emerged, including changes in hormone levels in the body and improved surgical

Acrocoelopolysyndrothia type II (Carpenter Syndrome) is a rare congenital malformation in which the child has a combination of acronychia (disproportionately long and stretched fingers), syndactyly (fusion of fingers) and polycephaly (multiple heads). This is a complex and rare disease that requires long-term and intensive medical care.

The causes of acrocoelopolysidhrodsathia type ll are unknown, but different genetic and molecular mechanisms have been proposed. Mutations in the genes encoding the synthesis of proteins involved in the processes of tissue growth and development can lead to the development of this disease. Another possible cause may be a disruption in the formation of the neural tube at an early stage of development of the embryo or fetus.

Symptoms of acrocoelopolysndritia type III are associated with the form of syndactly and polycephalic orientation of the fingers. Patients typically have one or more big toes on each hand and toe, which may be too long, too wide, or other forms of deformity. The shape of other fingers may also be affected, and there may be the presence of collateral fingers. Other characteristics such as wide eyebrows, pointed ears, an enlarged head, and various abnormalities in facial shape may also be observed.

Treatment of acrocoelopolysyndratiana type III begins in the early stages of pregnancy or the neonatal period and consists of special medical therapy and child care. Regular monitoring of the condition and development of functional skills of the fingers and brain are necessary. In severe cases, surgery is required. Surgical correction may include straightening syndattia and correcting polycephalic features. Such children require lifelong attention from doctors and the use of special devices for sports, manual labor and general development.