Jackson-Weiss syndrome

[Katie]

Are there any syndrome families here who have this, or are thought to? We know Dillon is syndromatic, but he has not received a definitive diagnosis yet. His aunt (Jenny) and cousin were both bicoronal, but Dillon was different in that he was bicoronal and metopic. For this reason, his geneticist was leaning towards Saethre-Chotzen syndrome, since it's one of the few syndromes that can vary in features.

I have looked, and looked, but I haven't found any information indicating SCS involves metopic, usually it is bicoronal. While researching, I stumbled across Jackson-Weiss. It seems to be a better fit. There are no specific sutures involved, it can vary from family member to family member, and it is often mistaken for SCS.

Anyone had the testing for this done? What is the detection rate in the testing? The test Dillon had for SCS only has a 60% detection rate, leading to a lot of false negatives. I'm wondering if the testing for Jackson-Weiss is the same.

[Jenny]

katie, do you have any links? I'd like to see some other features other than the fusions.

[Katie]

Here's the most detailed info I've been able to find. Dillon does have a broad big toe, and a toe that curves slightly, but no other obvious abnormalities. I read that sometimes the abnormalities can only be seen with imaging though.
http://www.healthline.com/galecontent/jackson-weiss-syndrome

[Jenny]

Hmmmm... its very close, right down to the incomplete closure of the roof of my mouth. But me webbing is 4th and 5th toes, not 2nd and third. Kayla also has deviated first toes.

[cheryl2]

It does sound a lot like SCS. Clara and I both have big broad toes, though no webbing. If we hadn't already tested positive for SCS, I'd consider JWS.

[Andrea Costa]

Hello
Cristóvão was thought to have JAckson Weiss when he was seen by a geneticist at birh. He has webbed toes, deviated thumb on both feet and bicoronal synostosis. He ended up being diagnosed with Pfeiffer Syndrome, but the mutation occurred in a different locus than usual. That´s why his characteristics are not as severe as other kids with Pfeiffer (for example, he doen´s need a trach, or multiple surgeries). He does have a mild Hydrocephalus though.
My present doctors say that in the latest studies Jackson Weiss is no longer considered a different syndrome, it´s just a phenotipic presentation of other syndromes (milder). Hope that helps. PM me if you´d like to discuss more about it, I´m super curious about these matters. : )