Apert syndrome is one of the rarest diseases caused by a genetic mutation. In Poland, 2 or 3 children are born annually with the Apert syndrome, i.e. the craniofacial syndrome. The main feature of this genetic condition is the premature fusion of the cranial sutures, causing a characteristic change in the shape of the baby's head.

Contents:

  1. Apert syndrome - causes and inheritance
  2. Apert syndrome - symptoms
  3. Apert's team - research
  4. Apert syndrome - treatment
  5. Apert syndrome - prognosis

Apert syndrome(Apert syndrome) can resemble Crouzon or Pfeiffer syndrome because all of these conditions are characterized by a mutation of the same gene (FGFR2) on the long arm of chromosome 10. The disease is also characterized by the presence of other deformities, including those of the hands and feet.

Apert syndrome is extremely rare, occurring at an rate of 1 in 165,000, a genetic condition caused by a mutation in the FGFR2 gene. This gene codes for information on the structure of the fibroblast receptor, i.e. cells of the connective tissue proper.

If this receptor is not functioning properly, it has dramatic effects on the development of the fetus. It causes premature overgrowth of cranial sutures, which means that the developing brain has a limited space for growth and, putting pressure on the skull, causes excessive bone growth in places where cranial sutures have not grown up. This process gives the baby's head an unusual shape.

In the course of the disease, the process of selective cell death in the hands and feet is also disturbed, resulting in fused fingers and toes. Apert syndrome occurs with equal frequency in boys and girls.

Apert syndrome - causes and inheritance

The cause of Apert syndrome is a genetic mutation in the FGFR2 gene. This mutation usually appears de novo, which means that it was not inherited from either parent. The factors that may increase the chances of developing this disease are not fully understood.

As with Crouzon's syndrome, the risk of developing Apert's syndrome increases with the age of the father. It is not known if other circumstances, such as, for example, radiation or exposure to harmful substances, haveany influence on the performance of this band.

Very rare cases of the familial occurrence of Apert's syndrome are known. The mutant FGFR2 gene is inherited in an autosomal dominant fashion.

This means that the chances of passing the disease on to your offspring are 50% and it does not depend on the child's gender.

Apert syndrome - symptoms

The main symptoms of Aperta syndrome include:

Craniosynostosis- this is a premature fusion of cranial sutures. Craniosynostosis very clearly changes the shape of the child's skull, which will depend on which sutures it concerns and at what stage of development it occurred.

Syndactyly- these are fused fingers and toes of a newborn baby. Their causes can be found in the disturbance of the apoptosis process of skin cells (less often also bone cells) in the hands and feet, which in the case of properly occurring embryogenesis is responsible for the separation of the fingers from each other. Syndactyly can vary in severity.

Other symptoms of Apert's syndrome are:

  • ocular hypertelorism, i.e. increasing the distance between the eyeballs
  • exophthalmus - exophthalmos
  • antimongoid arrangement of the eyelid gaps
  • insufficient education of the upper eyelids
  • flat and wide bridge of the nose
  • developmental defects of the facial skull
  • cleft palate (in 1/4 patients)
  • malocclusion
  • low rise
  • limb deformities
  • heart defects - most often it is a patent ductus arteriosus of Botalla, atresia of a pulmonary valve with a continuous interventricular septum
  • respiratory system defects
  • two-horned uterus in girls
  • hydronephrosis
  • increased sweating and acne tendency

Apert's team - research

Apert syndrome can be diagnosed during pregnancy on the basis of ultrasound. The doctor's attention is then drawn to the uncharacteristic shape of the fetal skull.

In cases where the condition is not diagnosed before delivery, the diagnosis of the birth defect is made after delivery, usually on the basis of the specific structure of the child.

In the case of children with Apert syndrome, it is necessary to perform head imaging studies to visualize the structures of the brain, the state of the brain, exclude or confirm intracranial hypertension and diagnose hydrocephalus.

Apert syndrome - treatment

The genetic mutation that leads to Apert Syndrome cannot be cured. However, it is possible to minimize some symptoms of the disease and prevent severe complications.

WDuring the first 6 months of a baby's life, surgery is often required to remove fused cranial sutures. This operation allows the brain to grow freely.

The treatment also reduces the risk of intracranial hypertension, which may lead to blindness or even death of the child. One cannot forget about the aesthetic function of the operation, because it restores the correct shape of the skull, which will allow the child to function normally in a peer environment.

Fusing fingers are surgically separated to partially restore the efficiency of hands or feet.

In the case of large craniofacial deformities, cleft palate or severe malocclusion, it may be necessary to perform maxillofacial surgery procedures.

A child with Apert syndrome must be looked after by many specialists - a neurologist, cardiologist, nephrologist, ophthalmologist, orthopedist and geneticist.

Apert syndrome - prognosis

A lot depends on the severity of the symptoms of the disease presented by the child, but also on the success of the surgery or treatment procedures performed.

More than half of patients with Apert's syndrome have a normal IQ and their psychophysical development is not impaired.

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About the authorAnna Jarosz A journalist who has been involved in popularizing he alth education for over 40 years. Winner of many competitions for journalists dealing with medicine and he alth. She received, among others The "Golden OTIS" Trust Award in the "Media and He alth" category, St. Kamil awarded on the occasion of the World Day of the Sick, twice the "Crystal Pen" in the national competition for journalists promoting he alth, and many awards and distinctions in competitions for the "Medical Journalist of the Year" organized by the Polish Association of Journalists for He alth.

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Category:

Genetic diseases