Cleft palate or lip is one of the most common birth defects worldwide, but do you know what it is? – ABC News

It's estimated that every three minutes, somewhere in the world a baby is born with a cleft lip or palate, making it one of the most common birth defects.

Eighteen-year-old Emma Johnston was born with a cleft palate and has been in and out of hospital her entire life for surgeries and speech therapy.

"I was very aware growing up that my face did look different because of that, the way that my jaw fit together, it was just very different to other people's," she said.

Babies born with a completely clefted palate often need surgery to avoid lifelong problems with speech, eating and hearing.

Emma Johnston got to know her surgeons and doctors very well over the years of her treatment.

(Supplied: Emma Johnston)

Emma Johnston got to know her surgeons and doctors very well over the years of her treatment.

While a minor cleft lip may not require surgical treatment, it can still affect someone's quality of life if they feel uncomfortable or are bullied about their appearance.

Emma was born with an isolated cleft palate, which meant she had no cleft lip or other abnormalities other than the open palate.

She had her first palate surgery when she was just nine months old, and has had nine operations just to put grommets in her ears.

"Surgeries, as much as I'm used to them, they're not fun, they're not pleasant," she said.

To understand what cleft palate is, you have to understand the palate which is essentially the roof of your mouth.

The soft palate is at the back of the mouth ending in the uvula, which is the teardrop-shaped bit of soft tissue that dangles down.

(Getty Images: Christoph Wilhelm)

The soft palate is at the back of the mouth ending in the uvula, which is the teardrop-shaped bit of soft tissue that dangles down.

Getty Images: Christoph Wilhelm

The hard palate is the bony plate at the front of the roof of your mouth, directly behind your upper teeth, and it helps move food back through the mouth.

Your soft palate is at the back of the mouth and is made up of soft muscle which closes against the back wall of the throat when swallowing, blocking the nasal passage.

The soft palate is also the working mechanism for speech, closing and opening depending what type of sound is being made to let air out.

Clefting of the lip or palate happens when there is an incomplete fusion of the palate development in the womb typically in the sixth to eighth week of pregnancy that results in an opening in the upper lip, palate, or both. It can vary in its severity.

"Cleft palate is an abnormal gap or opening in the roof of the mouth," explained plastic and reconstructive surgeon Vani Prasad.

"It can be very minor, just a change in the shape of the lip, or a small scar from the lip to the nose.

"It can be incomplete cleft lip meaning the lip has a visible gap, but the nose is not affected, or if it's complete, the cleft can affect the nose and extend into the gum."

As is the case for Emma, a cleft palate can be isolated not accompanied by a cleft lip. In others the cleft palate and lip can occur together.

"We do see babies with soft and hard cleft palate, plus a complete cleft lip," said Dr Prasad, who's based at the Australian Craniofacial Unit in Adelaide.

Cleft lip and palate management usually involves a multidisciplinary team of medical staff including surgeons, speech therapists, dentists and psychologists.

(Getty Images: China Photos)

Cleft lip and palate management usually involves a multidisciplinary team of medical staff including surgeons, speech therapists, dentists and psychologists.

Getty Images: China Photos

The extent of the clefting, and whether the palate or lip is cleft in isolation can determine treatment and management, as well as the impact it has on quality of life.

Being born with a cleft palate can affect speech, hearing, the ability to eat, as well as physical appearance not to mention the potential for being a frequent flyer at the hospital or doctor's office.

But Emma's doctors are hopeful her most recent surgery is her final surgery on her palate.

Emma's cleft palate meant that sometimes food and spit would come back out her nose, because the palate didn't close against the back of her throat.

(Supplied: Emma Johnston)

Emma's cleft palate meant that sometimes food and spit would come back out her nose, because the palate didn't close against the back of her throat.

Her surgeon, Dr Mark Moore from the Australian Craniofacial Unit, said 18-year-old Emma's palate was working hard when she spoke, but not going far enough to close the space with the back of her throat.

"We had to look at operations to make her palate longer," Dr Moore said.

"We made a cut in her palate along the soft palate and then made cuts on either side like a 'z' - like Harry Potter sort of on the forehead."

The surgery was successful and Emma was thrilled to be finished with her surgeries.

"I really wanted to see the seal in the back of my throat to know that I was doing that properly, it was brilliant," she said.

"On the outside I don't look any different to anyone else, now all the surgeries are done.

"It's terrifying, but it's a good terrifying. It's amazing."

As is the case with many babies with cleft palate, Emma had difficulty breastfeeding, which was one of the motivations to operate within a year of her birth.

Another reason for doing the cleft lip or palate repair operation early is to allow more time for proper speech development.

If the initial repair surgery is delayed it can impede speech development.

But the timing of cleft lip and palate repair is a subject of some controversy in the medical community, because a compromise has to be made regarding risk, facial growth, scarring, and psychological factors.

Most plastic surgeons think the ideal age for undergoing cleft palate repair surgery is between 6 to 18 months of age, and even earlier for cleft lip repair.

(Supplied: Chris Sprod)

Most plastic surgeons think the ideal age for undergoing cleft palate repair surgery is between 6 to 18 months of age, and even earlier for cleft lip repair.

Not everyone can have surgery for cleft palate or lip repair early in life though.

This is particularly an issue in developing countries in Asia, where the one in every 500 babies has a cleft palate and lip compared to one in 1,000 in white populations.

"In the past in some Asian countries, it's been because of a deficiency in folic acid," Dr Prasad said.

"A deficiency in folic acid can cause increased risk of neural tube defects, which can increase risk of cleft palate or craniofacial disorders," he said.

Dr Prasad said that pregnant women taking anti-convulsive medication for epilepsy can also have increased risk of their baby having cleft palate or lip.

Going through the process of cleft repair surgery with your baby can be hard, but Dr Prasad and his colleagues try to encourage parents to be positive about the change they are experiencing, as well as that of their baby.

"We tell parents of babies with cleft lip to think of their baby as getting to have two different smiles," he said.

"They have one smile before the repair surgery, and a different one after the surgery, so we tell them to enjoy both of their baby's smiles."

Scientists are still trying to narrow down the causes of cleft lip and palate, but research suggests there is some sort of genetic link.

In 2018, scientists identified four genes that, when functioning correctly, lead to the tissues around the hard palate becoming 'sticky' and fusing together the two sides of the palate.

The study, published in the American Journal of Human Genetics, focused on families in which multiple people were affected by cleft lip or palate, suggesting there could be an alteration within a single gene, said Tony Roscioli from Neuroscience Research Australia, who was an author on the study.

"We were able to identify specific gene mutations that were present in people with cleft lip palate in a number of families," Dr Roscioli said.

"A single genetic cause that was highly predictive."

Of the 209 people from 72 families in the study, the four genes accounted for the cleft palate or lip in 15 per cent of them, a small but significant step forward in understanding the genetic causes of clefting, according to Dr Roscioli.

"It is premature for [finding specific treatments], but perhaps ways of altering the function of these genes could be identified in the future that could lead to non-surgical treatments," he said.

Dr Roscioli was involved in another study published this year in the journal Human Mutations which identified one new gene that causes a form of cleft palate that's associated with skeleton abnormalities, and another new gene that causes isolated cleft lip and palate.

"It increases the number of genes known but also [suggests] that the genes work together," he said.

"It can also mean that there are extra genes available for people who wish to have genetic testing for cleft lip and palate."

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Cleft palate or lip is one of the most common birth defects worldwide, but do you know what it is? - ABC News