Understanding Moebius Syndrome

Our weekly focus on rare disorders and disabilities puts the spotlight on Moebius Syndrome. 24 January is marked as Moebius Syndrome Awareness Day worldwide, an attempt to draw global attention to a rare condition that is not easily understood.

A rare neurological condition, Moebius Syndrome affects the muscles that control a person’s facial expressions and eye movements. People with Moebius syndrome are unable to smile or frown, or raise the eyebrows. The muscle weakness linked with this condition also causes issues with feeding.

Signs of Moebius Syndrome

The signs and symptoms are present at the time of birth. A number of people with Moebius syndrome are born with a small chin, small mouth, and with a short tongue. Some may have cleft palate, or the roof of their mouth may be high. This leads to speech issues. Teeth are also missing or lack alignment.

Moebius syndrome affects the muscles that control the back and forth movement of the eyes. This means people with this condition have to move the head from side to side to read or to follow the movement of items. Their eyelids may not close completely when they blink or sleep.

Additional signs are weak muscle tone, issues with the feet or hands, and hearing loss. Children who are affected may experience delays in development of their motor skills.

Causes

Causes of Moebius syndrome remain unknown. The condition most likely results from a combination of environmental and genetic factors. No specific genes have been identified as related to the syndrome. Certain medications taken during pregnancy or drug abuse might be risk factors.

“Proper care and treatment give many individuals a normal life expectancy. The exact cause of the syndrome is unknown. It appears to occur randomly in most cases. However, some cases in families suggest that there may be a genetic component”, says the Organisation for Rare Diseases India

Treatment

There is no single course of medical treatment for Moebius syndrome. The children are managed by a multidisciplinary team of experts across different fields.

The signs usually get noticed by the paediatrician and if there is a sense that it is neurologically-related, then a reference to consult a neurologist may be give. There are cosmetic and physical effects to this condition and patients have to learn to love with it. There are physiotherapy and specialised occupational therapy treatments available. – Dr Mukesh Kumar, Neurologist, Max Hospital, Delhi

Some of the therapies that may be considered are:

Occupational therapy for patients with abnormalities of the hands, fingers and toes.
Speech therapy may be necessary for some affected children.
Splints, braces and prostheses may be necessary for individuals with congenital limb abnormalities
Genetic counselling may benefit affected individuals and their families.