Can you identify this deformity?

May 4, 2005 5:46 PM

Help me identify a deformity and its cause for my wife...

Years ago when my wife was working at a bookstore over Christmas she served a customer with the following characteristics:

-abnormally large head (not doubled in size, but definitely larger than normal)
-Male
-Mostly bald
-Tiny mouth
-lower jaw apparently missing, but fully articulated speech with very high pitched but human (non-mechanical) voice (his head was basically balloon shaped)
-Tall and well built
-No apparent mental defficencies

If this sounds familiar to anyone could you tell us what it is, what causes it, and point us to some images?

posted by PinkStainlessTail to Health & Fitness (16 answers total)

It's possibly Marfan's Syndrome. Or what the kid had in the movie Mask - craniodiaphyseal dysplasia.
posted by deborah at 6:00 PM on May 4, 2005

I have Marfan's Syndrome. There's nothing about the disorder (which involves a mutation of the gene for fibrillin, a kind of connective tissue) that has any relation having an abnormally large head, a tiny mouth, a high-pitched voice, and a missing lower jaw. The only similarity that I can see is that Marfan patients tend to be tall, but so are millions of other people. Most of our other general problems are related to the skeletal system (joint problems, tendendy towards scoliosis), heart (mitral-valve prolapse, risk of aortic aneurysm), and eyes (nearsighted, risk of retinal dislocation).
posted by scody at 6:31 PM on May 4, 2005

gah. "tendendy" = tendency.
posted by scody at 6:34 PM on May 4, 2005

Response by poster: Yeah, I had a friend with Marfan's and she didn't have anything in common with what my wife remembers. Thanks though!
posted by PinkStainlessTail at 6:43 PM on May 4, 2005

Sounds like an adult with progeria, but since it's a fatal childhood disease, that's impossible. Maybe there's a disease related to the facial structure part of progeria.
posted by Frank Grimes at 7:01 PM on May 4, 2005

Klinefelter individuals can be "tall and well built," but a big head isn't really a part of it.

Sotos syndrome can result in distinct-shaped heads on tall bodies.

Pierre-Robin can have tiny or misplaced jaws, but I don't think they are especially tall, and survival is more or less contingent on correcting the jaw placement.

Marfan sounds wrong, as scody notes, and I think your description of this guy's head would be different if he had a cranial dysplasia like the kid in Mask. Progeria individuals are not tall. (By the way, individuals with progeria can live to adulthood, although the average age at death is something like 15.)

Occasionally people are referred to congenital defects clinics who are just an unusual combination of their parents' features; your overall picture makes me wonder about this in this case.

Your description also sounds a bit like a human-alien hybrid, though. Was he able to communicate with your wife telepathically?
posted by caitlinb at 7:13 PM on May 4, 2005

Kinda like this or not so much? (It's what I first thought of when reading the description, not necessarily a great match.)
posted by kimota at 7:56 PM on May 4, 2005

The medical term for tiny lower jaw is "micrognathia"; you might try searching for that term to get some leads.
posted by kmel at 7:59 PM on May 4, 2005

Response by poster: Pinheads were the first thing I thought of too, but apparently not: she says the small mouth and apparent jawlessness are really key.
posted by PinkStainlessTail at 8:00 PM on May 4, 2005

There are also a large number of developmental disorders that are non-genetic. This is kinda a difficult thing to do with text, there are so many different things.
posted by rhyax at 8:18 PM on May 4, 2005

My apologies, scody. Pharaoh Akhenaten (yeah, I'm an Egyptophile) had some sort of disorder and Marfan's is one of the many armchair diagnosis' brought forth. His description, at least in part, corresponds with PinkStainlessTail's question. I really didn't do any research into cranio dysplasia, but can't it show up differently in different individuals (meaning different face shapes)?
posted by deborah at 9:06 PM on May 4, 2005

You rang, deborah?

It made me think of this exhibit at the Vienna Museum of Pathological Anatomy, but I'm pretty sure that guy would have had apparent mental deficiencies.

Really, really gross museum by the way. You are warned.
posted by Aknaton at 9:32 PM on May 4, 2005

Is it possible the large head and the missing lower jaw are unrelated? The mandible sometimes has to be removed if it becomes cancerous. The small mouth might be a consequence of not having a lower jaw.

There are some really neat (read: graphic, possibly disturbing to those who don't appreciate abnormal embryology) at this site. Maybe you'll find it there. You have been warned.
posted by greatgefilte at 10:14 PM on May 4, 2005

I 2nd micrognathia in the absence of other symptoms or history and especially in that he's got no mentation defects.
We could no doubt engage in conjecture until the cows come home about his head shape. Hydrocephalic? Weird parents as caitlinb said?
posted by peacay at 10:18 PM on May 4, 2005

neat images, that is.
posted by greatgefilte at 10:22 PM on May 4, 2005

I've seen a number of congenital cranial deformities that don't match known syndromes. In at least one of these, the kid was intellectually normal as well as physically normal from the head down. It was awful - the child was so frightening-looking that I shuddered every time I saw him, although I did my best not to let on.
posted by ikkyu2 at 2:57 AM on May 5, 2005