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Beals VS Marfans

Beal's Syndrome VS Marfan's Syndrome.

Could there be another syndrome similar to MARFANS? Well there is, a newly diagnosed Beal’s Syndrome. If you are a Marfan’s patient, I suggest you return to you Dr, and discuss BEAL Syndrome. As it’s virtually the same.

I have gathered some information on the subject from different URL’s, and there was only 5 websites on this. Please read below for your information.

** NEW INFORMATION ** (Thanks Mark): Beal's is a more severe form of Marfans with the exception of the heart which isn't effected. The predominant clinical feature involves the ears, they are quite "scrunched up" and abnormal in shape. The management of Beal's is the same as the management of Marfans and is dependant on the patient as to how it is treated, eg joints, spine, eyes etc. In all Tracy's time of being a genetic specialist she has only seen one patient with Beal's.
So, in a nutshell, if you have trouble keeping your Raybans on, you might have Beal's. If you do have Beal's, you treat it like Marfans, if you don't have Beal's, you treat it like Marfans.

Beal's is a more severe form of Marfans (except for heart) so the problems are generally more pronounced, but without the ear deformity would be diagnosed as Marfans even without the heart problem if enough other systems were also involved (eyes, joints, chest, spine, feet, etc). Either way, management is the same.

** NEW INFORMATION ** (Thanks Peter): Beal's is like an external Marfan's only-there is no associated internal
difficulty. My only "symptoms" (and I never thought of them as such as
I wasn't diagnosed until i was 32 years old)are long fingers,crumpling
on the ear(which my parents had surgically repaired when I was a
baby)some kyphosis of the lower backbone (it protrudes out a bit instead
of in)and a slight bowing of the elbows-my hips are a bit pronounced
,but I basically just look like a regular gangly guy-my daughter pretty
much the same only less.

** If anybody has any queries regarding Beals, please email Peter at :


Milewicz leads a research team that recently uncovered the genetic link to a rare condition called Beal's syndrome, or congenital contractual arachnodactyly, that bears a striking similarity to Marfan syndrome. The discovery was reported in the December issue of Nature Genetics.

Dr. Dianna Milewicz, assistant professor and director of medical genetics at the UT-Houston Medical School, discovered that mutations, or changes, in the FBN2 gene located on chromosome number five, cause a condition known as Beal's syndrome. While everyone has the FBN2 gene, only those with mutations in the gene contract the condition.

Individuals with Beal's syndrome are tall in stature with thin, gangly bodies, disproportionately long arms and legs, and narrow, elongated fingers. Many Beal's patients have moderate to severe scoliosis, or curvature of the spine, as well as joint problems and chest deformities. Beal's syndrome is closely related to another condition called Marfan syndrome, which also causes excessive tallness and scoliosis. Abraham Lincoln, based on his towering height, stooped posture and long limbs, is believed to have been afflicted with Marfan syndrome.

Unlike Beal's patients, Marfan syndrome patients have additional symptoms that can be life threatening, including heart problems, eye disorders, and musculoskeletal abnormalities. Several basketball and volleyball athletes who died suddenly later were found to have Marfan syndrome. Individuals with Marfan syndrome have a 50 percent chance of passing the condition on to their offspring.
"These statistics are probably identical for Beal's syndrome, but it's too early to tell with certainty," Milewicz said.
Approximately one in 10,000 people in the United States have Marfan syndrome, and about 300 in Houston are affected. Because Beal's syndrome is newly discovered, no one knows how many persons may be affected, Milewicz said. "It's also possible that some people believed to have have Marfan syndrome may have Beal's instead," she said.” They are very similar conditions."

Milewicz suspects that additional unknown conditions can result from mutations in the FBN2 gene but says predicting what those might be would be premature. "Preliminary data suggests that Beal's syndrome, like Marfan syndrome, may cause more than excessive height and limb length," she said. "Our next step is to determine just how far this disease goes." Many Beal's and Marfan syndrome patients have moderate to severe scoliosis, or curvature of the spine. But unlike Beal's patients, Marfan syndrome patients have additional symptoms that can be life threatening, including heart problems, eye disorders and musculoskeletal abnormalities.
"Aortic aneurysms ruptures of the major artery in the chest and abdomen are common in Marfan syndrome," Milewicz said.

In some Marfan patients," she added, "the lens of the eye‹the clear, transparent portion of the eye that focuses images on the retina often moves upward, causing distorted vision." Joint problems and chest deformities also affect some Beal's and Marfan syndrome patients, Milewicz said.

For the past 6 months I have been researching some of the different characheristics between Beals and Marfans. Adults to Children.Most of the symptoms.

Beals in Adults:

1. Wake up and fingers are curled up – quite painful when straightened.
2. Fingers do not straighten out , are curved and look like arthritic hands with large joints.
3. Fingers are long and thin. (Same As Marfan's)
4. Crumbled Ears. (Same as Marfans)
5. Tall. (Same as Marfans)
6. Long.(Same as Marfans)
7. Thin/skinny. (Same as Marfans)
8. Crooked Fingers
9. Crooked Toes.(Same as Marfans)
10. enlarged aorta.(Same as marfans)
11. Heart Murmur
12. Chest Palletes
13. Chest Deformilites.(Same as Marfans)

Beals in Babies/Children:

1. Toes are curled.(Same as Marfans)
2. Knees dislocate. (Same as Marfans)
3. Scoliosis. (Same as Marfans)
4. sunkin/concave chest. (Same as Marfans)
5. born with contractures of elbows and knees
6. long fingers.(Same as Marfans)
7. aducted thumbs
8. long toes
9. enlarged aorta.(Same as marfans)
10. very loose joints
11. high arched thumbs. (Same as Marfans)
12. flat feet. (Same as Marfans)
13. small jaw
14. Slightly crumbled on top of the ears
15. Severe kyphoscoliosis. (Same as Mild Marfans)

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