Musculoskeletal/Orthopedic

Musculoskeletal – Orthopedic Issues in Individuals with Emanuel Syndrome

Orthopedic and musculoskeletal differences/issues are common in children who have Emanuel Syndrome. The following are the more common findings:

Hips

Half of our children have problems with their hips. This can be as mild as hip dysplasia, or as significant as hip dislocation. Some of our children have required surgery to repair hip problems.

“Joaquin was diagnosed with mild developmental hip dysplasia at 18 months. He wears a hip brace every night for bed. It doesn’t bother him and it doesn’t limit his mobility – he can roll around, sit up, and scoot while wearing the hip brace.”

“Kieren was diagnosed at almost a year with left hip dislocation. It had been out since birth most likely. Extreme bracing was attempted at first. But—he wasn’t able to handle it. He had started to become intolerant to his formula, he had frequent stooling, and wouldn’t sleep with the brace. He had also begun to stand. In the end, we wore a Pavlik Harness (used for infants!) because with his Hypotonia he couldn’t ‘unvelcro’ himself. So without surgery and with minimal “bracing” Kieren’s hip was fixed.” PIC

“Aedyn was born with hip dysplasia and monitored by an orthopedic surgeon and hip ultrasounds since birth. At age 6 months, when his bones had developed enough to see on x-ray, it appeared he needed to have this addressed and was referred to another orthopedic specialist at a university medical center. Because he was so small and developmentally delayed, doctors thought that even at 7-8 months he was still a good candidate for a Pavlik harness. He used the harness 24 hours a day for about 3 months. Then was fitted for a different type of bracing that he wore overnight only for another year or so. The overnight bracing was actually quite easy for him and for us and just continued to give him extra help with positioning while he slept to help the ball form in the socket better. Daily weight-bearing (stander, gait trainer, etc.) also helps with this. Aedyn is currently 10 years old and has not needed surgery to further address this.”

“It was discovered much later on that Phoenix had hip dysplasia on the left hip. He has yearly orthopedic X-rays and reviews. Currently, his hip is sitting 1/3 of the way out. They will do surgery when it gets to 2/3. They prefer to wait as long as they can to do surgery due to growth they may need to repeat the surgery if it is done too young.”

Hypotonia

About half of our children have ankle instability, which is often associated with hypotonia. Often a physiotherapist or doctor will prescribe ankle-foot orthoses (ankle braces) to help with stability once the child starts to walk.

“Joaquin wore AFO’s (Ankle Foot Orthotics) because of his flat feet and also because he has foot pronation (where the inside of the foot curves out instead of in). When we were talking with his orthotist and former PT about what type of orthotic would be best for Joaquin we decided to go with the AFO’s, over the shorter SMO’s, they went up his calf so they help provided him with some stability while standing. He graduated to SMO’s after a year and a half and now has liners.”

Many of our children have smaller feet than typical. For example, Maia, Stephanie’s daughter who is an adult, has feet that are children’s size 11.

“Phoenix has tiny feet and small heels. He also has hypermobility in his joints including his ankle. He has had AFO’S since 1-year-old. He gets 1-3 pairs a year depending on growth. They help him stand and be supported through the foot and ankle.”

Kyphosis and Scoliosis

Kyphosis and scoliosis (changes in the curvature of the spine) are also fairly common (about 30% of children). Some have had the conditions seriously enough to require bracing or surgical intervention. Of the parents who have talked about their children who have had the surgery, while they acknowledge the challenges for recovery, they remark about how tall and straight their children’s backs are following surgery, and how it improved their quality of life.

“Myah wore the Milwaukee brace. She was supposed to wear it 23 hours a day, only off for 1 hour to bath, etc. without it. She could only tolerate it for short periods of time, I don’t think we ever got to more than 2 hrs total in a day. The doctor finally agreed that quality of life was more important at this age and we would deal with surgery later in life. The goal of the brace was not to fully correct scoliosis but to prolong the age when surgery would be needed. The doctor did not want to perform surgery on a child less than 10 yr old. Myah is 12 and we are going for surgery April 2022.”

Joints

Joint contractures (where muscles or joints are tightened) and torticollis (tight neck muscles that affect movement of the neck) have also been reported.

Some of our children have been noted to have an extra pair of ribs, or club feet. Instances of children with loose joints / hyperextensible fingers and toes have been seen as well.

Less Common Findings

Other less common findings seen in our children that have been reported in the literature include:

Flat feet
Rocker bottom feet
Clubfeet
Delay in bone age/growth
Dislocatable radius & ulna (forearm)
Shoulder joint subluxation
Proximally implanted thumbs
Coxa valgus (malformation of the femur)
Clavicle deformities
Clinodactyly (abnormally bent or curved fingers)
Vertebral fusion
Sprengel deformity (shoulder blade is too high on one side of the body, affecting movement)
Contractures, hypoplasia in fingers and toes
Different sized feet

“As Damian became older he didn’t want to walk. He sat on the floor, we didn’t know what happened. Took him to the doctor, because we didn’t know what was going on. And one day we realized he has his feet of different sizes and we had been buying his shoes for the small foot!

References

Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957

Toyoshima, M., Yonee, C., Maegaki, Y., Yamamoto, T., Shimojima, K., Maruyama, S., & Kawano, Y. (2009). Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome. American Journal of Medical Genetics. Part A, 149A(8), 1722–1726. https://doi.org/10.1002/ajmg.a.32762

Related Page: Care and Treatment