Freeman-Sheldon Syndrome is a rare genetic disorder that primarily affects the face, hands and feet. The disorder affects males and female in equal numbers, and approximately 100 cases have been reported since it was described by Drs. Freeman and Sheldon in 1938. Individuals with Freeman-Sheldon Syndrome typically exhibit a number of distinctive craniofacial abnormalities and malformations of the hands and feet. The most distinctive characteristic of this condition is a small puckered mouth causing individuals to appear to be whistling.
Craniofacial Characteristics of Freeman-Sheldon Syndrome
The most obvious and prominent characteristics of Freeman-Sheldon Syndrome involve craniofacial abnormalities, and most individuals with the disorder exhibit a number of the following.
- Small puckered mouth (microstomia)
- Sunken or flat appearance of the middle face (midface hypoplasia)
- Small tongue (microglossia)
- Small jaw (micrognathia)
- Misaligned teeth (malocclusion)
- Widely spaced eyes (ocular hypertelorism), deep set, or crossed eyes (strabismus)
- Downslanting eyelid folds (palpebral fissures) or droopy upper eyelids (ptosis)
- Narrowing of the eye opening (blepharophimosis)
- Short nose and underdeveloped nose cartilage
- Long area between the nose and mouth (philtrum)
- Deep folds in the skin between the nose and lips (nasolabial folds)
- Full cheeks
- Prominent forehead
- Raised mark on the chin in the shape of an H or V
Other Characteristics of Freeman-Sheldon Syndrome
Specific malformations and skeletal abnormalities also affect children with Freeman-Sheldon Syndrome.
- Hand malformations,
- Flexed fingers and thumbs and contracture of the joints.
- Curvature of the spine
- Contractures of the knees, shoulders and hips
While growth and some motor milestones may be delayed with this syndrome, intelligence and cognition are typically normal. Infants with Freeman-Sheldon Syndrome may have difficulty sucking or swallowing (dysphagia). This can result in failure to grow and thrive. Respiratory problems can also result, and speech abnormalities are common.
Causes of Freeman-Sheldon Syndrome
Freeman-Sheldon Syndrome results from a mutation in the MYH3 gene. It can occur randomly(most common), or it can be inherited as an autosomal dominant trait. The abnormal gene can be inherited from either parent. When a parent has the abnormal gene, there is a 50% chance the abnormal gene with be passed on to offspring. In rare cases, the disorder is caused by a recessive gene present in both parents.
The mutation of the MYH3 gene affects a type of protein called Myosin that is found in muscle fibers. Myosin is involved in muscle contractions. The mutation causes reduced functionality of the muscles and bone, leading to abnormalities as the fetus grows.
Diagnosis of Freeman-Sheldon Syndrome
Freeman-Sheldon Syndrome is diagnosed based on the identification of physical characteristics, patient history. advanced imaging techniques to look at the severity of certain craniofacial abnormalities, and electromyography to identify underdeveloped muscles in the hands and feet. Sometimes, the condition may be diagnosed prenatally by identifying abnormalities using ultrasound technology. Most of the physical characteristics are seen at birth, but symptoms do vary.
Treatment of Freeman-Sheldon Syndrome
Treatment for Freeman-Sheldon Syndrome requires a coordinated effort by a team of specialists and healthcare professionals. The treatment efforts consist of surgeries and therapies for specific symptoms, and early intervention is essential to ensure that children reach their full potential.
- Craniofacial surgery can improve many of the craniofacial abnormalities caused by Freeman-Sheldon syndrome. Surgery is commonly performed to reshape the frontal bone or increase eyelid opening,
- Orthopedic Surgery can improve hand and feet malformations
- Plastic surgery is often performed to increase the size of the mouth. A device that expands the mouth for a few hours each day is also a common treatment.
- Orthodontic and dental treatments are often needed to straighten teeth and improve oral health.
- Physical therapy is an important component of treatment. When combined with surgery it can significantly impact hand function and the ability to walk.
It is important to note that Children with Freeman-Sheldon Syndrome can be prone to malignant hyperthermia, a condition in which a person does not react appropriately to certain types of anesthesia. Malignant hyperthermia may cause muscle rigidity, high fever, increased acid levels, breakdown of muscle fibers and a rapid heart rate. The condition can be life threatening if not treated immediately.
Please contact the Craniofacial Team of Texas if you would like to schedule an appointment.
If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request.