What Is FACES Syndrome?

FACES syndrome, or Friedman-Goodman syndrome, is an uncommon disorder with unique presentations. Some of these symptoms include skeletal, eye, skin, finger, toe, and facial abnormalities. Causes are largely undetermined, although a genetic basis is possible. Treatments are likewise vague, and mainly combat specific symptoms.

Musculoskeletal disorders target muscles and the ligaments and tendons that forge connections with bones. FACES syndrome can be debilitating in this capacity. It can lead to cachexia, which is a slow wasting away and dysfunction in several areas of the body, including the muscles. This in turn creates tiredness, overall weakness, and a loss of appetite, or anorexia. Movements also become sluggish, and mobility may eventually cease altogether.

The weakening of the bones and the bone-muscle connections may also cause abnormalities in skeletal development. One common consequence in FACES syndrome is a large curvature in the upper back area, known as kyphosis. In addition, a sideways curve in the spine may result in scoliosis, a rib cage that does not align properly, or a sunken chest.

Other FACES syndrome symptoms may further impair movement. For example, many patients have extra skin between fingers and toes, making gripping and walking more difficult. Walking may be further hindered if the patient has no visible foot arches, or if the patient presents with bowed legs. Thyroid-related problems may cause a person’s limbs and overall body to be especially short, which could impact mobility as well.

This disorder derives its name from the various afflictions that can occur in the facial area. For example, nostrils are often shaped abnormally. In addition, eyelids can droop, eyes may be deeply set in the skull, fat may be found in larger supplies around the eye. Lesions in the eye’s retina may even cause vision problems. In this condition, an unusually large number of freckles and other skin anomalies may also be present on the face.

Many symptoms are generally present from a young age or even birth, so scientists suspect that certain genes may play a role in the development of this disease. In some cases, members of one family may share the ailment. Exact genetic underpinnings have not been uncovered, however. A large number of FACES Syndrome's symptoms may result from the impact the ailment has on proteins that help guide bodily inflammation processes.

Since FACES Syndrome is such a medical rarity, comprehensive and rounded treatments have largely gone undeveloped. Most treatments seek alleviation of particular symptoms. Cachexia, for example, may be treated with corticosteroid hormones that combat inflammation and increase appetite. Physical therapy, body braces, or surgery may help correct anatomical abnormalities and movement problems.