Althea

Hello all,

Does anyone here know of a clinic / practice that is currently studying Beals (CCA)? Does anyone here have personal experience with this syndrome?

Marfan Syndrome has run in my family for at least three generations, and I’ve known about my condition for most of my life. I try to stay on top of what’s happening in the field as it might impact my medical care. Recently I came across a description of Beals Syndrome on the National Marfan Fdtn. website and so many things clicked into place… I’m wondering if I (and most of my family) actually have Beals and not Marfan Syndrome.

To my knowledge no one in my family has been to a genetic counselor, because most affected family members made it to adulthood before such testing was even available. The common traits shared by my affected family members are marfanoid stature, extreme myopia, joint contractures and what we’ve lovingly termed ‘cauliflower’ ear – a crumpled appearance to the top part of one or both ears.

My individual symptoms / descriptions are as follows:

Skeletal / Muscular: I’m a 31-yr old female with tall / skinny frame (wingspan greater than height) but no joint hypermobility. My elbows have not straightened fully since birth, although a mild contracture of the ring and pinky finger of the left hand resolved on its own by the time I was 6 months old. I was born with clubfeet that were corrected with casts worn for the first 6 weeks of my life. Calves / forearms have always been skinny, and I blame my weak calf muscles for my constant ankle sprains. Recent fractures have led doctors to believe I have osteoporosis. (Bone density scan scheduled for a few weeks from now.)
My toes / fingers are ridiculously long.

Cardiac:
Mild mitral valve prolapse, but no aortic dilation. I get regular echocardiograms, latest one was within the last year.

Ophtho:
Extremely myopic (-17 diopters), but no lens dislocation / retinal detachment.

Cranio-facial:
I’ve never had the typical long and narrow Marfan’s face. Instead I have a rather round face with a small-ish lower jaw. ‘Cauliflower’ crumpled appearance on the upper / outer left ear.

My research on Beals indicates it might be a closer fit to my symptoms than Marfan, but I’m not sure who to turn to for help in this process.
Is there anyone else out there who’s been in a similar situation?

Thanks,
Althea