Information & Resources
Information & Resources
A little info about fibular hemimelia (fh), congenital femoral deficiency (pffd) and our journey. I’ve listed numerous Surgeons & Hospitals that we have personally used along with additional doctors. Also listed are some blogs that I have found in my journey that provide a lot of good information that make you realize your are not alone.
If you have any questions about anything please don’t hesitate to contact me, I truly love helping other families that are going through this.
Fibular Hemimelia (fh) is a rare disease, occurring 1 in 40,000 births.
FH results in the partial or total absence of the fibula, a shortening of the tibia and foot deformity. Common trait is the tibia having a dimple
1 in 250,000 babies are born with both FH & PFFD
Congenital Femoral Deficiency (pffd) leads to a congenitally short femur with different degrees of a lack of formation of the hip and knee joint
Treatment options for the above diagnosis’s are amputation and/or limb lengthening
Surgeons & Hospitals
Shriners Hospitals for Children
Dr. Jeffery Dunker Ackman MD and Cathy Schroeder, Rn, BSN
***Dr. Ackman performed Matthew’s Syme’s/Ankle Disarticulation Amputation
Children’s Hospital of Chicago
Ann & Robert H. Lurie
Dr. John J. GrayHack, MD
The Rubin Institute for Advanced Orthopedics
Dr. Herzenberg
Shriners Hospital of Chicago
Dr. Altiok Limb Lengthening Specialist
Rehabilitation Institute of Chicago
Deborah Gaebler-Spira, MD
Attending Physician
Professor of PM&R, Pediatrics
Prosthetics & Orthotics
David Rotter Prosthetics
David Rotter
Scheck & Siress
John Angelico, CP / LP
John helped me find my way!
I’m most certainly thankful for John and co-workers.
Shirley Ryan Ability Lab Formerly know as RIC Rehab Institute of Chicago
**Matthew LOVES his Prosthetist Jared Rammell
FH & PFFD Support Blogs & Sites
Miscellaneous
Books & Movies
Little House on the Prairie
The Complete Season 1 (A girl with a shorter leg gets a special shoe made)
Boo-Boo’s New Leg
A True Story of Illness, Acceptance, and Healing
(This book helped Matthews siblings)
Frequently Asked Questions
What is fibular hemimelia?
Fibular hemimelia is a birth defect where part or all the fibular bone is missing and there are associated
limb length discrepancy, foot deformities, and knee ligament problems.
How common is fibular hemimelia?
Fibular hemimelia occurs one in 40,000 births. Bilateral fibular hemimelia (fibular hemimelia affecting
both legs) occurs much less commonly.
What causes fibular hemimelia?
It is unknown why fibular hemimelia occurs. Some research in animals has demonstrated that if during
early formation of the limb the genes guiding the formation of that limb are activated in an abnormal
order, fibular hemimelia can occur. Other experiments have demonstrated that isolated mutations of
genes in the forming limb bud can lead to missing parts of the limb. Since such gene mutations and
abnormalities are occurring in the forming limb and not anywhere else in the child (especially not in their
sperm or egg cells), these mutations are isolated to that child and cannot be transmitted to the next
generation.
How does fibular hemimelia affect a child?
Children with fibular hemimelia have four main problems with their limb:
1. Limb length discrepancy.
2. Foot and ankle deformities.
3. Knee deformity.
4. Deficient cruciate ligaments of the knee.
How can it be treated?
Predicting the leg length discrepancy at skeletal maturity is a first step to evaluating a treatment plan. This is done by x-rays of both legs and measuring the lengths of all the bones in the legs. A ‘multiplier’ calculation is used to calculate the predicted leg length discrepancy. Treatment depends on the severity of the condition and normality of the foot;
• In cases where the fibula is present and shortening is not severe, treatment is usually leg equalisation by lengthening the affected leg or by slowing the growth of the other leg (epiphyseodesis) or sometimes both.
• If the foot is reasonably normal, it may be possible to lengthen the leg using distraction apparatus such as a frame.
• If the foot is twisted outwards, it may be possible to correct it adequately using surgery.
• If the foot is not sufficiently normally formed and the tibia is too short, it may be best to amputate it through the ankle and fit a prosthesis (an artificial limb)