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Freeman Sheldon syndrome

Also known as: Distal Arthrogryposis Type 2A, Whistling Face syndrome

Background

Freeman Sheldon syndrome was first described in 1938 by Freeman and Sheldon. It is a rare genetic condition that mainly affects the face, hands and feet.

Credits

Medical text written December 2012 by Dr Adam Shaw, Consultant in Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.

What are the symptoms?

Children with Freeman Sheldon syndrome may have:

  • Distinctive facial appearance, including:

- microstomia (a small mouth) with pursed lips - giving the appearance of a 'whistling face'
- prominent forehead and brow ridges
- mid-face hypoplasia (a sunken appearance of the middle of
the face)
- a short nose, and a long philtrum (area between the nose
and mouth)
- hypoglossia (unusually small tongue)
- micrognathia (small jaw)
- a high arch in the roof of the mouth (high-arched palate).

  • Eye problems, including:

- hypertelorism (widely spaced eyes)
- deep set eyes
- down-slanting palpebral fissures (outside corners of the eyes that point downward)
- blepharophimosis (a narrowing of the eye opening)
- ptosis (droopy eyelids)
- strabismus (a squint, ie eyes that do not look in the same direction).

  • Joint problems and bone problems, including:

- joint contractures (deformities) that restrict movement such as distal arthrogryposis  (multiple contractures in the hands and feet at birth)
- camptodactyly (permanently bent fingers and toes) due to contractures
- ulnar deviation  (a hand deformity in which all of the fingers are angled outward)
- clubfoot (inward- and downward-turning feet)
- curvature of the spine (scoliosis).

  • Affected children may also experience:

- a failure to gain weight and grow at the expected rate (failure to thrive)
- speech problems
- hearing loss.

Children affected by Freeman-Sheldon syndrome may also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia.

Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but around one-third have some degree of learning disability.

What are the causes?

Freeman-Sheldon syndrome may be caused by mutations in the MYH3 gene. The MYH3 gene provides instructions for making a protein called embryonic skeletal muscle myosin heavy chain 3. This protein belongs to a group of proteins called myosins, which are important for muscle development and function.

How is it diagnosed?

Freeman-Sheldon syndrome is usually diagnosed on the combination of problems, such as the contraction of the joints and the appearance of the face. Genetic testing for the MYH3 gene may help if the diagnosis is uncertain.

How is it treated?

Treatment for the condition consists of reducing the affects of the symptoms, therefore improving quality of life. Babies often need help with feeding in infancy and nutritional support. Growth should be monitored by a paediatrician through childhood. Physiotherapy should be used to alleviate the joint contractures and occupational therapy is often helpful. Many people require orthopaedic surgery to relieve joint contractures and improve function and mobility.

Glue ear can be a problem and is treated with grommets by an ear, nose and throat (ENT) specialist. A squint should be treated in the same way as in other children.

There may be malocclusion (misalignment) of the teeth and orthodontic treatment of this may be required. Opening the mouth fully for dental treatment may be difficult.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Freeman Sheldon syndrome is usually inherited as an autosomal dominant trait, although often a child is the first member of the family to be affected. Affected families should be referred to a genetics centre for information and support

Prenatal diagnosis
Prenatal diagnosis would be available if the genetic alteration in the family is known.

Is there support?

Information and support in the UK for Freeman Sheldon syndrome is provided by steps (see entry Lower Limb Abnormalities).

A support group outside of the UK exists for Freeman Sheldon syndrome, please ring our helpline for details. Contact a Family's web-based linking service can be accessed at community.cafamily.org.uk