"Characteristic craniofacial malformations typically include a long, narrow head (dolichocephaly), an unusually prominent forehead (frontal bossing), and a triangular-shaped face with a prominent, pointed chin, large ears, and/or abnormally flat cheeks." From NORD

No long, narrow head.

A slightly prominent forehead, maybe, but nothing you'd notice without squinting.

No prominent, pointed chin.

No large ears.

I don't think she has abnormally flat cheeks. This is usually related to something called "hypoplasia" which means a mid-face bone that is undeveloped. When that happens you get problems because there isn't enough space for all the teeth to come in. But she hasn't had any tooth problems at all, and is teething on schedule with good spacing. So if she has any hypoplasia, it's so mild as to be pointless.

"In addition, in some affected children, the teeth may be abnormally crowded together; as a result, the upper and lower teeth may not meet properly (malocclusion)." Same place.

See above.

"Skeletal abnormalities associated with the disorder include unusually thin bones, particularly the shafts of the long bones of the arms and legs (diaphyses); abnormally long, thin bones of the spinal column (vertebrae); and/or distinctive malformations of the ribs and shoulder blades (scapulae)." Same place.

I wouldn't have a clue about this, really. But the skeletal dysplasias expert did say any findings with her bones were "very subtle"; she admitted it's possible that they're not there.

"Affected individuals may also have additional abnormalities including permanent fixation of certain fingers in a bent position (clinodactyly), unusually short fifth fingers, and/or increased flexibility (hyperextensibility) of the joints." Same place again.

No, no and no.

According to Gene Reviews, other symptoms include:

"fleshy and upturned nose, full lips, full eyebrows"

No flesy and upturned nose. No full lips. Her eyebrows are hard to see b/c they're so fair, but I don't think they're particularly full.

It would be one thing if the experts had said "we see these findings on her x-ray, so even though she doesn't have a characteristic face, we think this is it." But they didn't. They weren't even sure of the radiological findings; so to me the whole diagnosis is in doubt.

And if the radiological findings are so subtle they can't even be sure of their presence, and so few of the other findings are there--I mean, Frances's head is not long and narrow. It's very round. That's one of the reasons they had us doing the craniosynostosis dance before.

Here is my alternative theory:

Erik's father is 5'4". His immediate family (father, mother, brothers, sisters) are 5'2" at the tallest (the men) and most are under 5'.

BUT

Erik's father's kids are all TALL.

His daughter (my SIL) is 5'7"; Erik is 5'10"; his son (BIL) is 6'2". If my FIL's short stature were "normal" (as the geneticists call it) his children should not be that tall. It wouldn't be impossible, but it would be very unlikely. A geneticist would predict they would be in the range of 5'3" to 5'8".

So that is a pattern that is compatible with a recessive genetic trait, yes? Short man has very tall kids?

One might argue that perhaps this family had 3-M syndrome themselves and that's why they were all so short. But that is impossible. One of the effects of 3-M syndrome is sterility or subfertility in men. Erik's father had 11 siblings. That don't sound like a subfertile guy to me. All of the men in that family went on to have kids of their own, as far as I know.

So perhaps Erik's father's family had some other genetic syndrome that results in short stature but isn't 3-M.

On my side of the family, we have a history of short stature, too. I have a great-aunt who is 4'6" after a good night's sleep and wearing shoes. She's tiny. She may even be shorter than that--it's hard to remember. Anyway, all of her siblings were a normal height. She was the only short one. Because the government forcibly sterilized her as a child, we won't ever know what her own children would have been like.

I also have a cousin (who is tall) who married a man (who is average to tallish) and their first child was a daughter who is also tiny. At 4 1/2 years she was 27 lbs. That's below the third percentile. Not as much as Frances, but regardless. She's tiny too.

But her parents aren't. And neither of her siblings are. Which to me sounds again suspiciously like a recessive genetic syndrome. Doesn't it? But again, if it's 3-M, no one has diagnosed it--and they're not quite short enough. If the average height of an adult with 3-M is 4' then these people are giants in the world of 3-M.

So I do believe that it's possible that there is a recessive genetic syndrome involved that Erik and I are carriers for--possible a different one in each family that acts on the same gene. (Any aspiring geneticists want to take a stab at what would happen then?) But if there is, it's not 3-M because the adults aren't short enough and the men aren't infertile. So it's something else.

I feel like I might be reaching at straws here, but it's not so much that I'm desperate to avoid a 3-M diagnosis (I'm not) as that 3-M doesn't make any sense to me. Where did this recessive trait come from? Doesn't it seem awfully unlikely that in two families with a history of bizarrely short stature this other recessive syndrome just pops out of nowhere? Doesn't it make more sense to stick with the family history?