Acrocephaly

Acrocephaly is a rare congenital disorder characterized by an unusual skull shape. People suffering from this disease have a skull that is pulled upward, forming a cone shape. Also called tower skull, this condition can lead to a variety of health problems.

The term "acrocephaly" comes from the Greek words "acro" (meaning "upper" or "end") and "kephale" (meaning "head"), which reflects the main features of this disease.

Acrocephaly is caused by a genetic disorder that results in an unusual skull shape. This disease is inherited from parents, both of whom must carry the defective gene. In some cases, acrocephaly can be caused by mutations in the FGFR2 gene, which controls the growth of the skull bones.

People suffering from acrocephaly may have problems with breathing, hearing and vision due to the altered shape of the skull. There may also be problems with the brain and nervous system, such as developmental delays and epilepsy.

Treatment for acrocephaly may include surgery to reshape the skull. In some cases, it may improve health problems associated with this disease. However, treating acrocephaly can be complex and requires a team of specialists such as neurosurgeons, plastic surgeons and geneticists.

Although acrocephaly is a rare condition, it can seriously affect the health and quality of life of people suffering from it. It is therefore important to be aware of the risks and take the necessary steps to ensure appropriate treatment and care.



Acrocephaly (also known as acrocrania, oxycephaly, pyrgocephaly or cranial turret) is a rare congenital disorder characterized by an unusual skull shape. The term "acrocephaly" comes from the Greek words "akro" (meaning "top" or "edge") and "kepale" (meaning "head"), reflecting the high top of the head that is one of the main features of this condition.

In children suffering from acrocephaly, the skull has an unusual shape, which leads to abnormalities in the growth and development of the skull. Most often, the skull becomes elongated and towering, with a high top of the head and a flat face. These changes in the shape of the skull can cause various problems related to the child's brain function and facial features.

One of the main causes of acrocephaly is genetic mutations or heredity. Some cases of acrocephaly may be associated with mutations in genes responsible for the growth and development of the skull. However, the exact causes of acrocephaly are still not fully understood.

Symptoms of acrocephaly can vary depending on the severity and characteristics of each individual case. Some common signs include a high forehead, narrow top of the head, facial asymmetry, long face, abnormal eye shape, and breathing problems. These symptoms can vary in severity, and sometimes other developmental abnormalities are included, such as heart defects or mental retardation.

The diagnosis of acrocephaly is usually made based on a physical examination of the newborn baby and x-ray studies of the skull. Additional examinations, such as computed tomography (CT) or magnetic resonance imaging (MRI), may be performed to evaluate the skull structure in more detail and identify associated abnormalities.

Treatment for acrocephaly usually involves surgical correction. Surgery may involve reconstruction of the skull to restore normal head shape and function. In some cases, repeat surgeries may be required during childhood development to achieve optimal results.

In addition to surgery, children with acrocephaly often require comprehensive medical care and support. MedicineAcrocephaly

Acrocephaly (also known as acrocrania, oxycephaly, pyrgocephaly or cranial turret) is a rare congenital disorder characterized by an unusual skull shape. The term "acrocephaly" comes from the Greek words "akro" (meaning "top" or "edge") and "kepale" (meaning "head"), reflecting the high top of the head that is one of the main features of this condition.

In children suffering from acrocephaly, the skull has an unusual shape, which leads to abnormalities in the growth and development of the skull. Most often, the skull becomes elongated and towering, with a high top of the head and a flat face. These changes in the shape of the skull can cause various problems related to the child's brain function and facial features.

One of the main causes of acrocephaly is genetic mutations or heredity. Some cases of acrocephaly may be associated with mutations in genes responsible for the growth and development of the skull. However, the exact causes of acrocephaly are still not fully understood.

Symptoms of acrocephaly can vary depending on the severity and characteristics of each individual case. Some common signs include a high forehead, narrow top of the head, facial asymmetry, long face, abnormal eye shape, and breathing problems. These symptoms can vary in severity, and sometimes other developmental abnormalities are included, such as heart defects or mental retardation.

The diagnosis of acrocephaly is usually made based on a physical examination of the newborn baby and x-ray studies of the skull. Additional examinations, such as computed tomography (CT) or magnetic resonance imaging (MRI), may be performed to evaluate the skull structure in more detail and identify associated abnormalities.

Treatment for acrocephaly usually involves surgical correction. Surgery may involve reconstruction of the skull to restore normal head shape and function. In some cases, repeat surgeries may be required during childhood development to achieve optimal results.

In addition to surgery, children with acrocephaly often require comprehensive medical care and support. Medically