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Apert Syndrome: All You Need To Know About This Rare Congenital Disorder

Neurosurgeons highlight the importance of pre-natal tests to identify any congenital disorder, like Apert Syndrome, which can affect a child physically as well as mentally.

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Written By: Longjam Dineshwori | Updated : January 21, 2023 11:30 AM IST

Apert Syndrome is a rare congenital disorder that happens to 1 in 65,000 to 200,000 births across the globe. It occurs when the baby is still in the womb, and affects the skull, face, and at times even toes and fingers. The condition can affect the child's intelligence and make him/her mentally retarded. However, if treated on time and completely, the patient can have a normal life expectancy and will be just like any other child. Often the first reconstructive surgery of such patient is recommended after 9 months.

Neurosurgeons reshape skull of a baby born with Apert Syndrome

In a rare of the rarest condition, doctors at Paras Hospitals, Gurugram reconstructed the skull of a 9-month-old boy born with Apert Syndrome. The team led by Dr. Sumit Sinha, Director, Spine and Neurosurgery Paras Hospitals were able to remodel the skull with the help of absorbable polymer plates. The patient will need plastic surgery to reconstruct his face at 5 or 6 years of age, the said.

The boy, Mohammed Nabeel, from Delhi, was born with this rare condition. His first cry was just like other babies, but he had peculiar grotesque facial features which clearly showed he has Apert Syndrome. Doctors at that time recommended the first surgery after 9 months.

Talking about the child's condition, Dr Sinha said, "When in the womb, the bones in his skull were fused with one another and that restricted the growth of his brain. He had a visibly small skull because of this, his brain did not develop, affecting him mentally and physically. The situation is rare, but what is rarer is the association of other things in the patient's body like fused fingers, all five fingers were fused in the child. There are facial abnormalities like protrusion of the jaw, protrusion of the eyeballs, increased distance between the eyeballs and regression of the maxilla."

Treatment of Apert Syndrome

After assessing child's rare condition, Dr Sinha and team decided to first illustrate the remodelling and then preceding for the surgery ahead. The patient was admitted on 27th November 2022 (visit date) and the surgery was conducted on November 29, 2022.

Post the reconstructive surgery, the child has a normal-looking skull, and he is recovering gradually to get along with routine activities that were affected due to limited brain growth, the doctor said.

His next surgery will be done to separate fingers of both hands and it will be conducted after 1-2 years, and another surgery to reconstruct his face when he turns 5-6 years of age, according to the doctor.

Shauqat Ali, father of the patient, is happy that he was able to get the surgery done on time for his child and thanked the doctors for the successful outcomes. "I hope Nabeel plays with other kids soon and we don't have to keep him isolated to save him from the judgemental looks of people," the father stated.

Pre-natal tests important to identify congenital disorder

The neurosurgeons at Paras Gurgaon highlighted that pre-natal tests are recommended to every parent to identify any such complication to the baby. 1st pre-natal test has to be done before 20 weeks of pregnancy and 2nd after the 28th week. If the condition is detected, termination of pregnancy can save a lot of issues in the future, if done on time.

Mothers should take care of their diet during pregnancy. The inclusion of foods with folic acid and essential vitamins is a must, they added.