# Need a disease/genetic syndrome for a novel **URL:** \ **Category:** Factual Questions\ **Created:** [November 6, 2012, 6:23pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115 "2012-11-06T18:23:52Z")\ **Posts on this page:** 16\ **Page:** 1
**Author:** ![StarvingButStrong](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/starvingbutstrong/32/335_2.png) [@StarvingButStrong](https://boards.straightdope.com/u/StarvingButStrong)\ **Post date:** [November 6, 2012, 6:23pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/1 "2012-11-06T18:23:52Z")
It has to 1. leave the sufferer mentally handicapped to a significant degree – say, toddler to early grade school level of ability at most. 2. have some sort of immediately visible physical manifestation – the more striking the better, actually. 3. not require on-going treatment by regular pills or injections. 4. let the person with the disease/syndrome survive to adulthood. Any such disease? ---
**Author:** ![dauerbach](https://avatars.discourse-cdn.com/v4/letter/d/c2a13f/32.png) [@dauerbach](https://boards.straightdope.com/u/dauerbach)\ **Post date:** [November 6, 2012, 6:28pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/2 "2012-11-06T18:28:10Z")
Crouzon? > **[Crouzon syndrome](https://en.wikipedia.org/wiki/Crouzon_syndrome)** > > Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. > This syndrome is named after Octave Crouzon, a French physician who first described this disorder. First called "cran... ---
**Author:** ![running\_coach](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/running_coach/32/15836_2.png) [@running\_coach](https://boards.straightdope.com/u/running_coach)\ **Post date:** [November 6, 2012, 6:28pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/3 "2012-11-06T18:28:29Z")
[Down Syndrome](http://en.wikipedia.org/wiki/Down_syndrome) ---
**Author:** ![KneadToKnow](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/kneadtoknow/32/3999_2.png) [@KneadToKnow](https://boards.straightdope.com/u/KneadToKnow)\ **Post date:** [November 6, 2012, 6:29pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/4 "2012-11-06T18:29:54Z")
[Microcephaly](http://en.wikipedia.org/wiki/Microcephaly) springs to mind. It appears to be able of meeting all your requirements. ---
**Author:** ![robert\_columbia](https://avatars.discourse-cdn.com/v4/letter/r/e79b87/32.png) [@robert\_columbia](https://boards.straightdope.com/u/robert_columbia)\ **Post date:** [November 6, 2012, 7:18pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/5 "2012-11-06T19:18:46Z")
What came to my mind immediately was Down Syndrome. It causes intellectual disabilities as well as a characteristic “look”. I don’t see any specific drug therapy that is generally indicated and that meaningfully treats the condition. People with it can be given extra educational interventions and therapy that can help them finish school or get a job, but there isn’t a pill you can take every day that makes you as smart as an average person but when you stop taking it you become retarded again. ---
**Author:** ![Broomstick](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/broomstick/32/246_2.png) [@Broomstick](https://boards.straightdope.com/u/Broomstick)\ **Post date:** [November 6, 2012, 7:21pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/6 "2012-11-06T19:21:44Z")
[Fetal alcohol syndrome](http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome) could also apply, those most affected have some distinctive facial characteristics. ---
**Author:** ![Jackmannii](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/jackmannii/32/311_2.png) [@Jackmannii](https://boards.straightdope.com/u/Jackmannii)\ **Post date:** [November 6, 2012, 7:37pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/7 "2012-11-06T19:37:29Z")
[Michelin tire baby syndrome](http://en.wikipedia.org/wiki/Michelin_tire_baby_syndrome) (though the developmental delay is typically temporary). ---
**Author:** ![KneadToKnow](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/kneadtoknow/32/3999_2.png) [@KneadToKnow](https://boards.straightdope.com/u/KneadToKnow)\ **Post date:** [November 6, 2012, 9:32pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/8 "2012-11-06T21:32:25Z")
Apparently [harlequin-type ichthyosis](http://en.wikipedia.org/wiki/Harlequin-type_ichthyosis) is now treatable. It’s got #2 on the list in spades, not sure about #1. ---
**Author:** ![Broomstick](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/broomstick/32/246_2.png) [@Broomstick](https://boards.straightdope.com/u/Broomstick)\ **Post date:** [November 6, 2012, 10:10pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/9 "2012-11-06T22:10:01Z")
I’ve never heard of harlequin ichthyosis causing diminished intelligence, even if the group of survivors is small. That does not seem to be a feature of any of the ichthyosis syndromes. ---
**Author:** ![Derleth](https://avatars.discourse-cdn.com/v4/letter/d/b9e5f3/32.png) [@Derleth](https://boards.straightdope.com/u/Derleth)\ **Post date:** [November 6, 2012, 11:44pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/10 "2012-11-06T23:44:03Z")
> [@KneadToKnow](#): > > Apparently [harlequin-type ichthyosis](http://en.wikipedia.org/wiki/Harlequin-type_ichthyosis) is now treatable. It’s got #2 on the list in spades, not sure about #1. This does not cause mental problems. Typically, it simply killed people in infancy, but that’s not necessarily the case now. My vote would either be severe Down Syndrome (with the caveat that there are people with Down who are more intelligent than some people without Down) or microcephaly. You might also look at hydrocephalus, with the note that severe hydrocephalus causes epileptic seizures and convulsions. ---
**Author:** ![PandaBear77](https://avatars.discourse-cdn.com/v4/letter/p/edb3f5/32.png) [@PandaBear77](https://boards.straightdope.com/u/PandaBear77)\ **Post date:** [November 7, 2012, 12:03am UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/11 "2012-11-07T00:03:36Z")
Moyamoya ---
**Author:** ![IvoryTowerDenizen](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/ivorytowerdenizen/32/17937_2.png) [@IvoryTowerDenizen](https://boards.straightdope.com/u/IvoryTowerDenizen)\ **Post date:** [November 7, 2012, 1:22am UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/12 "2012-11-07T01:22:58Z")
Down Syndrome is probably your best bet. Cri-du-Chat is good, but doesnt have a very distinctive look. [Cri du chat syndrome - Wikipedia](http://en.wikipedia.org/wiki/Cri_du_chat) Primordial Dwarfism. [Primordial dwarfism - Wikipedia](http://en.wikipedia.org/wiki/Primordial_dwarfism) ---
**Author:** ![Broomstick](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/broomstick/32/246_2.png) [@Broomstick](https://boards.straightdope.com/u/Broomstick)\ **Post date:** [November 7, 2012, 2:54am UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/13 "2012-11-07T02:54:56Z")
I don’t think primordial dwarfism results in mental deficit, though. ---
**Author:** ![IvoryTowerDenizen](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/ivorytowerdenizen/32/17937_2.png) [@IvoryTowerDenizen](https://boards.straightdope.com/u/IvoryTowerDenizen)\ **Post date:** [November 7, 2012, 3:00am UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/14 "2012-11-07T03:00:28Z")
> [@Broomstick](#): > > I don’t think primordial dwarfism results in mental deficit, though. Some subtypes do. See the Wikipedia page I linked to. But it’s not all types. ---
**Author:** ![StarvingButStrong](https://sea3.discourse-cdn.com/straightdope/user_avatar/boards.straightdope.com/starvingbutstrong/32/335_2.png) [@StarvingButStrong](https://boards.straightdope.com/u/StarvingButStrong)\ **Post date:** [November 7, 2012, 3:01pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/15 "2012-11-07T15:01:22Z")
Wooo… so many awful ways things can go bad for people. Sad. But useful for my authorial needs.😃 Thanks, guy! ---
**Author:** ![Mama\_Zappa](https://avatars.discourse-cdn.com/v4/letter/m/71e660/32.png) [@Mama\_Zappa](https://boards.straightdope.com/u/Mama_Zappa)\ **Post date:** [November 7, 2012, 11:23pm UTC](https://boards.straightdope.com/t/need-a-disease-genetic-syndrome-for-a-novel/640115/16 "2012-11-07T23:23:30Z")
Prader-willi, though the physical manifestation may “just” be morbid obesity. The one person I knew with it did have an “off” look about his facial features, but not as striking as Downs. Some of the trisomies (other than Downs which is T21) might qualify though T13 and T18 aren’t really survivable - the vast majority of live-born children die in the first year of life. Trisomy 9 seems to have some facial issues but no more dramatic than Downs (and less recognizable). Treacher Collins syndrome has dramatic facial issues but doesn’t generally include mental delays (though some people may have delays).