Cleft and other associated conditions (syndromes)

Sometimes when a child is born with a cleft lip and/or palate there is a chance that they may have one or more additional medical conditions. These associated conditions include Pierre Robin sequence (PRS), Stickler syndrome and 22q11 deletion syndrome. Pregnant mothers whose unborn child is diagnosed with a cleft lip will be offered further tests because these babies are more likely to be born with a syndrome than babies without a cleft. Some are offered an amniocentesis test (where a sample of the fluid surrounding the developing baby is taken and analysed) in an attempt to detect syndromes with potentially greater impact such Edward’s and Down’s syndrome.

The most common condition to be associated with a cleft is Pierre Robin sequence (PRS). PRS is usually detected at birth because these babies can be born with an unusually small chin. These babies usually have a cleft palate because the tongue does not fall into place properly while the baby is developing. The cleft is usually wide and U-shaped and will affect the hard palate at the front of the mouth and the soft palate at the back.

Children born with PRS may also experience breathing difficulties. Clinical nurse specialists (CNS) will advise families on an individual basis but very often they recommend these infants sleep and feed on their sides in the weeks following birth. Babies born with PRS may also need help with their airway and are sometimes a naso-gastric tube – this is a tube that goes straight into the baby’s tummy so that food can be delivered directly and this avoids the risk of milk going down the wrong way when the baby is feeding.

Della has a son and daughter born with cleft palate and other conditions. She has subsequently found it difficult to work due to amount of appointments they need to attend.

Age at interview 27

Gender Female

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But theres so many hospital appointments, it’s literally yesterday I had two, tomorrow I’ve got one, it’s, it is a lot. And they all seem to come at once: they’re like every three to six, and they roll on a cycle like that. So all of a sudden you’ll get… the beginning of August, within four days I had two separate appointments in [place name] I had to get all the way to and back.

Yeah.

And then theres the local ones in amongst that a week later, and it all comes at once. And at first her dad wasn’t working, so I was getting him to take her, and look after her when she was ill. Because she… when they’re younger they seem to get a lot more coughs, a lot more colds than… average children and she was off a lot. And then he got a job, and that was it, I… it was… even though, you know, she didn’t have the tubes or anything anymore, with all the hospital appointments and things like that I was constantly taking time off work. So when I got pregnant with Tay they were like, We can’t afford to keep you on, which I could understand in a way because to them it’s like, Shes going to need even more time off going for scans and things like that. But it was hard because I’m thinking, Now I’ve got no job. I’ve got… I’m going to have another child. So in that… it scared me, absolutely terrified me. I was living with my sister: we lived together since… since we left home weve always had a flat together. And there wasn’t going to be enough space, so it was like, Now I’m going to have to move out on my own, I’m pregnant, and it was terrifying at the time. But it’s… everything works out I suppose: just difficult in the beginning.

So there must be a financial cost as well?

Yeah.

How do you get to the appointments and?

I didn’t know until Tia was about just over 2, just about 2 ½… the health visitor got involved a bit more heavily, because there had been something that had happened with her dad, and the health visitor came round. And then she found out about all the problems and things and she basically advised us of all these things that we could apply for.

Right.

And she explained about the Disability Living Allowance and she filled out all the forms and sent it off, and Tia got that awarded at the middle rate, at the care component. And that helped dramatically towards… because it is expensive getting to the hospitals. You do get them refunded if you’re on benefits, but you have to remember to take all these different things, and sometimes they don’t accept what you’ve taken and it’s a bit of a nightmare. Because the worst is when we have to go to, because it’s [specialist hospital] it’s like £40 something on the train and you’ve got to find that money in advance. Even if you are going to get it back, you’ve got to find that.

Book your ticket.

Book it, pay for it yourself and then get it refunded once you get to the hospital. And when I first had Tia that was a… very difficult for me: just on normal Income Support with the Tax Credits it was impossible. And it used to scare me trying to scrape the money together to get to the hospital appointments. So when I got the Disability, it helped massively. But in my eyes it was… it was difficult, because to me shes not disabled.

Yeah.

So it was like… swallowing your pride. It’s kind of like you’ve got to swallow your pride to accept this money.

Theres a labelling of your child?

Yeah that’s how it feels, yeah, and I didn’t want to put that label on her. And it’s like I had to swallow my pride because, in the end, you know, it benefits her and she has a better life from it. But then even with my son, I didn’t apply for it for a very long time: I didn’t [laughs] want to. Again it was the same thing: I didn’t want to do that, it was not something I wanted. I’m thinking, It’s going to get better, it’s going to get better, and then in the end it wasn’t.

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Because of their reduced airways some PRS babies may have a difficult time with anaesthesia so the anaesthetist and the rest of the surgical team will take special precautions during surgery (See ‘Cleft treatment pathway‘).

Stickler syndrome (SS) is also associated with cleft palate. However it is a much rarer condition and may often go undiagnosed. Stickler syndrome is a genetic condition and is normally passed from parent to child. It can affect both boys and girls. Having Stickler syndrome reduces the amount of collagen, the connective tissue which supports the organs and covers the bone ends within each joint, in the body. Collagen also helps to make the eyes work properly so children born with Stickler syndrome will require regular check-ups at an eye hospital. This syndrome is also associated with heart murmurs such as ‘mitral valve prolapse’ and so visits to paediatric heart doctors (cardiologists) may also be needed.

Maria Y’s daughter was suspected to have Pierre-Robin Sequence (PRS) because she was born with a small chin but it was discovered that she had Stickler syndrome.

Age at interview 41

Gender Female

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OK and what kind of information did you get from, first of all the cleft nurse?

She gave us information about feeding, showed us how to feed [daughter’s name] properly. She told me that I could still feed [daughter’s name] myself and she said they could lend me a breast pump. Because there was a query about [daughter’s name] having Pierre Robin Sequence, she immediately said that [daughter’s name] was to sleep on her side, showed me how to do that, and she also provided a sleep positioner as well for when we came home to help with that. But quite quickly the nurse realised that she didn’t have Pierre Robin, but we still use the sleep.

What, within hours, or does it take longer?

Well it was probably by the end of the visit she said, just by looking at her. She gave her a really good examination and said, She probably hasn’t got it. But she also mentioned Stickler syndrome as well, because it goes along with having a small chin and having a cleft.

Did you have to have any genetic testing at all?

We had that later on. We waited probably until the following August.

OK.

But then it’s to get the appointment, because the geneticist team only have a paediatric appointment one Friday every month, so they only have 12 a year, so we had to wait for that.

And the fact that, you know, her chin dropped, so she definitely didn’t have Pierre Robin Sequence, which was good news.

OK so what was the time period before her chin dropped?

It was probably about six to eight weeks before we noticed.

So all that time there was this issue of whether she had Pierre Robin?

Whether she had got it or not. I mean the cleft nurse said, She doesn’t seem to have any other markers for it. She seems to be feeding better, and her, she could see that her jaw, as she was growing, was actually moving downwards, which was, which was good news.

So in that time what kind of information seeking did you do?

I think the second or third time our cleft nurse came to visit wed written, I think, two and a half sides of A4 of questions.

Really? Yeah.

And, you know, some of them very random to like will [daughter’s name] be able to speak properly, will she be able to hold a spoon, will she have any development issues, even things like well can she have a sleepover at Nana’s house? You know, things like that, you know, and environmental issues.

Really practical questions?

Yeah very practical. And then other things like how long will it take her to recover from surgery? So we had, I mean we sat down and we wrote lots of questions, and the cleft nurse took them and she was able to answer all of them, which was very good. I think the cleft nurse is amazing.

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Maria Y has to take her daughter for regular eye check appointments and her daughter will have to consider the risk of passing on Stickler syndrome to her any children of her own.

Age at interview 41

Gender Female

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OK so would you say the Stickler’s is more of an issue than the cleft?

Yeah.

Potentially yeah?

For us yeah. I mean everything’s calmed down now.

But to put it in perspective it’s?

Hmm… yeah that’s, weve had more issues with her with the Stickler’s than we have with the cleft palate.

OK yeah.

Yeah the cleft palate was fixed at six months.

And that’s kind of?

That was kind of it really. And then the Stickler syndrome is… taking over a little bit.

Yeah I can imagine, yeah.

So again that adds to our list of clinics that we visit, [laughs] because we have to go to the eye hospital quite a lot.

Have you been told about any potential surgery when shes older, teenage years?

No weve only… I mean the only thing that she will have to think about is when shes older and thinking of getting married or anything, is the fact that she has 50% chance of passing her Stickler syndrome on to any children that she has, so she would need to be aware of that when she was older. I mean that’s quite a big issue for her. I mean we didn’t know, so we just had two children. She might decide… Am I going to have children or am I not? That will be her decision.

OK so there is a slight risk?

Well it’s a 50% chance.

Sorry, 50% of Stickler’s?

Of Stickler’s.

Oh sorry yeah, I’m getting confused. The Stickler’s is 50%?

Yeah.

And the cleft is?

And the cleft could be… it’s either/or I think, you know, from having a child with Stickler’s she could have a baby with a cleft or she couldn’t, or she could have a baby that’s very short-sighted like herself, or a baby with hearing issues, or a baby with hypermobility.

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Della explains how Stickler syndrome may affect her daughter’s eyesight.

Age at interview 27

Gender Female

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Stickler’s. It’s a connective tissue disorder.

Right.

And that’s what’s at the back of her eyes, all of our eyes, I didn’t know, or my family, we didn’t know anything about this until after my daughter was born.

Gosh yeah.

Not long after my daughter was born my sister went to [opticians] and had… like they take photos of the back of your eyes, and they said, You’ve got a lot of holes in them; we need to refer you to hospital. So that was another reason we got put forward for testing for the Stickler’s, because that’s a symptom of it.

Right.

So we would need to have cryotherapy just to try and stop our retinas from detaching.

OK yeah.

So that’s something weve all got to do.

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Della’s son has appointments with a paediatrician and was diagnosed with a heart murmur called mitral valve prolapse. This meant that her son’s cleft palate surgery might be delayed.

Age at interview 27

Gender Female

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But we had a routine appointment with the paediatrician the same day after the dietician and they found a heart murmur.

Right.

So now were waiting for the heart scan, which is another reason were going to [place name] tomorrow, because locally they couldn’t give us a heart scan either. They were too busy, were too fully booked.

Gosh, so is it definitely a murmur or is it a suspected?

No they said it’s definite, hes definitely got a heart murmur, but it could be innocent; they’re not sure.

Is that something to do with the syndrome or?

I wasn’t aware until I was… I went to, we went to see a geneticist a couple of months ago, from [Hospital name] and we saw them when Tay was quite small, and they just wanted to follow up how everything was going on, and they wanted to take some pictures for their reference and things. And she was asking about joints and things like that… [laughs] I’ve completely forgotten what I was going to say now.

About the heart murmur.

The heart murmur, yeah. And she asked me something about my joints, and I couldn’t remember what shed called it, because my joints are really painful at the moment from it. And I was trying to Google it, and I couldn’t remember what it was called, so I went onto Wikipedia, Stickler syndrome, to find out like associated conditions.

Yeah.

And there was something, a mitral valve prolapse, which is quite common with Stickler syndrome, and they don’t know why. And so I’ve literally just stumbled across it by accident, and then I was crying and I thought, This is awful. Because one of the things it said was it can be associated with sudden cardiac arrest, and I was like, Oh no, this is horrible. I wish I’d never read this. But the doctor did say, you know, it could be innocent. There are heart murmurs that are innocent, but they just need to follow it up to check obviously before they put him through surgery.

Yeah OK, so it could affect the anaesthesia or?

Yeah, I don’t know, that would be… they’d have to have a look, because hes having an ECG tomorrow, so hopefully.

So they want to make sure his heart’s healthy?

Yeah, before they put him through. And then as long as everything’s OK they’ll be able to book him for surgery, but that takes a couple of months. So it’s very late, which is worrying because you think how is it going to delay speech?

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22q11 deletion syndrome is also known as DiGeorge syndrome, Shprintzen syndrome, or conotruncal anomaly face syndrome. It occurs because of a change on chromosome 22 and can cause characteristic or unusual facial features, heart abnormalities, palate problems (e.g. an isolated cleft palate, a submucous cleft palate (where there is a layer of skin covering the cleft) or a soft palate that looks normal but still causes problems with speech or feeding), low blood calcium levels and low immunity to infection. Babies born with 22q11 deletion syndrome may have some or all of these conditions and each to a varying degree.

Laura’s daughter was diagnosed with Di George or 22q11 Deletion Syndrome following genetic testing and so was her partner.

Age at interview 22

Gender Female

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So what services kicked in then once the diagnosis was made? What happened?

Well… we got to see a dietician because of the weight gain, got to see… got in touch with the… CLAPA… then we had genetic testing.

You had genetic testing?

Yeah she had genetic testing because it was a cleft.

OK is that a routine thing with a cleft?

Yeah it’s a routine test that they did just in case. So she… that came back that she had Di George Syndrome.

OK could you just spell that for me please?

It’s Di George and then Syndrome.

Di George Syndrome.

Yeah.

OK thanks.

Which led to… because it is genetic… and so it went to me and her dad being tested, and it also came back that he had it.

He was a carrier?

No, he actually has it.

He actually has it?

Yeah.

OK and what does that mean? How does it affect you as a person?

It affects everybody differently.

Right.

So 174 symptoms of it, that no two people are exactly the same.

OK yeah.

…Being diagnosed so late her… dad wouldn’t… he doesn’t show many symptoms at all, but it does show the fact that… he has had it, and you can tell when hes been growing up: things all link up to the Di George.

OK what kind of things are they?

The learning difficulties.

OK yeah hmm.

The ADHD when he was younger, the hearing problems.

OK.

Immune system, yeah.

So is it a kind of systemic problem then that can affect?

It affects the mid-line everybody.

Mid-line?

Yeah so everything on your mid-line, like your thyroid, your thymus gland…

OK yeah.

Your brain, your heart, your liver, kidneys, spine, it can cause scoliosis and things like that.

So it’s quite serious?

Yeah.

Potentially.

It can be.

Yeah.

Yeah [laughs] and people do lose their life on it with the congenital heart defects that it can cause.

Right.

So were quite lucky that… neither of them

They’ve had their hearts checked?

They’ve had their hearts, well… baby’s had her heart checked; were just waiting for dad to have his checked. But theres no… major worry for him at this stage.

So can it affect the heart valves or?

Yeah.

Is that what it does?

Yeah can affect quite a bit of your heart. And… I don’t really know the heart side of it because weve not come across it yet, so… yeah.

OK so theres quite a few things to be aware of?

Yeah a lot of things to be [laughs] a lot of things to be aware of, so yeah.

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Sometimes a child born with a cleft can have unidentified genetic conditions and will receive long-term medical follow-ups to ensure that any conditions that may emerge are diagnosed as early as possible.

Tamsin and Andrew’s son was born with bilateral cleft lip and palate and has also been tested for other unspecified genetic conditions.

Age at interview 29

Gender Male

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Tamsin: And you got, you got the standard cleft lip and palate treatment. If it was just that then actually it was OK, if that’s what you were going to look at. But you are told quite early on that there are there is potential for extra anomalies with the cleft, that are linked to a cleft. So

You were told that?

Tamsin: Yeah.

Yeah OK so would it be fair to say that it wasn’t a total surprise or?

Tamsin: I think with [son’s name] we were more in, more saying, Oh well there is obviously something going… happening here, more than a cleft lip and palate. So…

Andrew: Again, I think if we had just been diagnosed at 20 weeks.

Tamsin: Yeah.

Andrew: Then the story would be very slightly different then, that you were just going to… you know, You’ve got a cleft lip and palate; we don’t think theres anything else going on. But because we had led up to the point of the diagnosis of a cleft lip and palate and they were actually looking for other things.

Tamsin: Yeah.

Andrew: then weve always been talking a broader, a cleft lip and palate was one of the symptoms of the broader thing that they were talking about with [son’s name].

OK.

Andrew: So not surprising,

Tamsin: Because were also, you’re also dealing with a new baby and… having to look after a new baby as well. So

Andrew: I mean we were at least having, at that stage, one hospital appointment a week.

Tamsin: Yes.

Andrew: really, with different [deep breath] different things that we were looking at, sight and the cleft and, and different things like that so there was a lot of

You mentioned his sight, was that something related to the cleft or?

Tamsin: We don’t know yet. The ongoing, we have ongoing genetic things going in. It’s probably quite likely that he has some sort of syndrome… hes got a few too many symptoms of something. He could equally just be really unlucky and… we will see.

OK it’s yet to be confirmed?

Tamsin: Yes, yeah.

Andrew: It’s undiagnosed. If it is something, it’s something incredibly rare.

Tamsin: Yeah.

OK.

Andrew: So

Tamsin: well have to see. Developmentally hes, hes absolutely normal, if you can [laughs] say normal, so it’s all physical things about [son’s name] that might be

OK.

Tamsin: So he wears, yeah, hes short-sighted, he wears glasses as well.

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Late diagnosis of cleft

When a baby is born with a cleft palate, healthcare professionals such as midwives, medical consultants, or other specialists hope to be able to diagnose...