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Facial Dysmorphia Or Odd Facial Features


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#1 Plumbuddle

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Posted 16 May 2010 - 09:32 PM

We got the full written CAMHS diagnosis on Mario's Aspergers recently and in it they noted he had droopy eyelids and a small pointy chin. I found this somewhat odd as Mario has a huge chin. Anyway they seemed to regard this as important so I googled "autism facial dysmorphia" and got just the one article from the States where it is argued that there is a specific type of autism that's not inherited but that occurs as a result of something going wrong in the first three months of pregnancy whereby the brain malformation is somehow complemented by some facial dysmorphia. This type of autism occurs equally in boys & girls, the article said. It referred to small heads and small pointy chins. I wondered if CAMHS were slightly straining to fit Mario in with this description, especially as my personal belief is that Mario has inherited his Aspergers from my own father. However I am still interested in what they said, and wondered if anyone knew of any other research about this or had been told things like this. I googled quite a lot after that discovery but found nothing else on the net.

Just curious!

#2 Eggman

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Posted 16 May 2010 - 09:56 PM

Never heard of this one very interesting though!

#3 chickens

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Posted 17 May 2010 - 05:32 AM

sometimes autism co exists with another syndrome called fragile X syndrome. This can be associated with facial dysmorphia (but Im not suggesting this is what is going on in your case)if you google fragile X you will get access to the fragile X society if you are interested. It might be worth asking CAHMS for an explanation of whats going through their minds and if you are worried ask for an onward referal to a pead or something.

#4 Mozzy

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Posted 17 May 2010 - 06:10 AM

Up till the last couple of years I was always told I looked younger than I was.

I have a few physical abnormalities such as short fingers and toes but none to my face really.

sometimes autism co exists with another syndrome called fragile X syndrome.


I would not say Ausitm and Fragile X co-exist, I don't think you can have a diagnsis of both as Fragile X pretty much covers everything autism plus a few extras.

Also Fragile X can produce physical abnormalities but not major ones usually, often they even go un noticed.

It may be worth having the genetics looked in to as quite a few chromosome abnormailities can cause minor (and major) facial differences. For example I know a child whith a problem on chromosome 20 why has minor face differences, her eyes are further apart than that of a 'normal' person. Again I did not notice till it was pointed out to me.

#5 Plumbuddle

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Posted 17 May 2010 - 06:39 AM

The thing I googled was different from fragile x + was called "complex autism". Though as it happens, CAMHS did mention fragile x to me, which involves having a big head, long chin, high palate, soft skin, low iq, autism, and passes genetically between males. Tho mario doesn't really fit that one either apart from big head + long chin + asd. They offered us some genetic tests which I leapt at cos if there is a connection w my dad I wd find it v helpful to know for all my nephews' sake and so I cn b prepared for developmental issues as mario heads for adulthood. I will keep u all posted on the types of tests offered (unknown at this stage) on this thread. Thanks guys! Great to b back. I've been off the site for a month or so.

#6 miss-understood

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Posted 17 May 2010 - 08:15 AM

My son looks completely 'normal' (what ever that means)

I think it is fairly common to test for fragile X when you have just had an autism diagnosis (maybe like a lot of things depends where you are in the country.

Nice you have you back and let us knowhow you get on

#7 whathatnoise

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Posted 17 May 2010 - 08:35 AM

That's interesting. They might have got that wrong if there is a strong family link, or like you said they just wanted to fit him into this category.
I had never heard of it before.
B has a small pointy chin, huge eyes and one of his pupil isn't dilated properly, but he has a big head, much bigger than the average for his age.

#8 louloutinks

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Posted 17 May 2010 - 09:27 AM

Hi PB,

yes I have heard of it as I have been a googling before in the past too about the link between clinodactyl (bent little fingers) and autism. Little legs has really bent little fingers - so does my mum though (not as bad).

I have read that small feet, low set ears, small jaw, different palmer lines can be characteristics of people with ASD.

I would ask about why it was mentioned in the report too.

Ahh and another thing that I read is that a lot of individuals with ASD, there pupil reactions are rather slower than normal!

#9 tedybearr

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Posted 17 May 2010 - 09:30 AM

welcome back :excellent
I have also heard they have a tendencey to have wirey hair too.

#10 louloutinks

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Posted 17 May 2010 - 09:44 AM

welcome back :excellent
I have also heard they have a tendencey to have wirey hair too.


Agree with that!

#11 Kadenza

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Posted 17 May 2010 - 10:05 AM

I haven't heard of this - it's not mentioned in the OU course I've just completed!

The only thing I would say (and please don't jump on me for this) is that you can find pretty much any link to autism if you look hard enough. Without going back to CAMHS and asking them to explain the relevancy, backing it up with paperwork, I would put no store on it at all.

#12 Plumbuddle

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Posted 17 May 2010 - 12:39 PM

The pupil reactions point fits our profile - I find evidence like that, which is measurable, is more convincing than subjective descriptions of chins. They even talk about hair whorls and quiffs in the piece I googled. . But I have noticed mario's slight facia
l rigidity cd well b down to a facial muscle problem which is ultimately neurological. Can't wait for the day when brain imaging will give us some more clues.

#13 Trace

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Posted 17 May 2010 - 03:09 PM

The condition they're looking into with Callum (partial agenesis of the corpus callosum) has strong links with autism. It's common to have MRI scans in the states and there's loads of research into neurology and autism, but over here they're only just getting started. How many autistic chilren over here have been offered MRI scans? ... it's taken us 12 years and that's WITH a brain abnormality diagnosed ante-natally and so many MAAT meetings arguing over a diagnosis I think they've given up. I guess the prognosis and treatment is the same whether a neurological problem is found or not, and it's not life threatening, so it doesn't really matter :angry:

#14 lennie len

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Posted 23 May 2010 - 06:21 AM

Just seen this, my daughter has facial dysmorphia, but it goes with her syndrome, she doesn't have ASD.

One thing I have noticed for sure with a lot of children with ASD is their facial characeristics. The wide bridge inbetween their eyes, their nose type, their eyes, their lips.
When I have befriended people on facebook and looked at their family photos, I can't believe their facial similarities.

#15 louloutinks

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Posted 23 May 2010 - 06:40 PM

Just seen this, my daughter has facial dysmorphia, but it goes with her syndrome, she doesn't have ASD.

One thing I have noticed for sure with a lot of children with ASD is their facial characeristics. The wide bridge inbetween their eyes, their nose type, their eyes, their lips.
When I have befriended people on facebook and looked at their family photos, I can't believe their facial similarities.


Hi Lennie,

Little legs has a broad bridge and he has a very small nose - dainty - tiny really. People always comment on his nose.

What have you noticed about children (with ASD) noses???




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