Madisons Foundation - Moms And Dads In Search Of Needed Support
Freeman Sheldon Syndrome
Monday, 24 May 2004
Sunday, 28 November 2004
Whistling face syndrome, craniocarpotarsal dystrophy
Freeman-Sheldon syndrome (FSS) is a rare, inherited, genetic disorder characterized by the combination of skeletal malformations and unique facial features. First described in 1938, children with FSS have skeletal malformations in the hands, feet, and skull.
The frequency of FSS is not known however there is a tendency for FSS to run in families. Males and females are affected equally and there is no apparent racial predilection.
Signs and Symptoms
There is a very wide range of severity in Freeman Sheldon syndrome. Children with FSS may exhibit any of the following:
• Unique facial features: deep-sunken eyes with widened space between eyes, droopy upper eyelids, low-set ears, small nose and nostrils, and long philtrum (crease between upper lip and nose) The small mouth appears like the child is whistling.
• Deformities of the hands with contractures of the fingers mimicking arthritis.
• Clubbed feet leading to difficulties walking.
• Difficulties with swallowing
• Increased muscular tone
• 70% have normal intelligence, others have some degree of mental retardation.
• Growth impairment.
• Hearing loss and speech impairment.
• Scoliosis – lateral curvature of the spine.
The cause of FSS has not been identified at this time, though it appears to be inherited. Most children inherit the disorder in an autosomal dominant fashion where only one copy of the defective gene is required for disease. There have been some cases where neither parent has any sign of the disorder, but they have an affected child. Analysis of chromosomes is normal.
Making the diagnosis of FSS relies upon identifying the characteristic facial features with the skeletal malformations of the hand, feet, and skull. There are no special laboratory tests that can make the diagnosis. The diagnosis should be made by an experienced geneticist. Your doctor may order x-rays to evaluate for bony skull defects or abnormal spinal curvature. An MRI (magnetic resonance image) of the brain may also be ordered to determine if there are any underdeveloped portions of the brain. Referral to a specialized craniofacial team/center is essential to successful medical care.
There is no cure for FSS. Management is primarily supportive, focusing on aggressive physical, occupational, and speech therapy. Surgical repair options are determined by the treating craniofacial surgeons and are usually limited to severely affected children. Operations or casting procedures to correct the hands, feet, and/or mouth are done by orthopedic and plastic surgeons while craniofacial surgeons reshape the frontal skull bone and increase eyelid openings. Children with FSS are at high risk for a condition known as malignant hyperthermia while under anesthesia, therefore surgeries should be done with a trained pediatric anesthesiologist.
Most children with FSS live normal lives with varying degrees of limitation in motion. Aggressive rehabilitation and physical therapy is the key to ensuring the best recovery.
Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.
The National Craniofacial Association
Nicely organized website with useful information and links.
Freeman-Sheldon Parent Support Group
International self-help organization for individuals and families touched by FSS.
Non-profit organization dedicated to providing support and information for parent of children with facial disfigurement.
Contact a Family
UK based website for families with disabled children.
Aren, G. et al. (2003) Freeman-Sheldon syndrome: a case report. Quintessence Int. 34(4):307-10.
Alonso-Calderon, J.L, and Ali-Taoube, K. (2002) Freeman-Sheldon syndrome: clinical manifestations and anesthetic and surgical management. 56(2):175-9.