Hallermann-Streiff Syndrome Health Article

Eyes

Individuals with Hallermann-Streiff syndrome may be born with clouding of the lenses of the eyes (congenital cataracts). Congenital cataracts are the most common eye disorder and are usually the reason for a visit to the eye specialist in early life. The cataracts have been reported to spontaneously disappear in some cases. The second most common eye problem is that the eyes are unusually small. Other eye problems may include rapid, involuntary eye movements, crossing of the eyes, and/or decreased visual clarity, and in some cases, blindness.

Teeth

Dental problems are very common. They may include the presence of teeth at birth and the presence of extra teeth. Underdevelopment of tooth enamel and cavities are also common. As well, there may be absence, malformation, and/or improper alignment of certain teeth.

Growth and development

Most individuals with Hallermann-Streiff syndrome are born at term but about one-third are born premature and/or have a low birth weight. Short stature is seen in about half of the individuals with Haller-mann-Streiff syndrome. The average final height for females is about 60 in (152 cm) and for males it is about 61 in (155 cm).

Most individuals are of normal intelligence; however, it is estimated that 15-30% of individuals with Hallermann-Streiff syndrome show some degree of mental impairment or slow development. Hyperactivity and seizures have been reported in a small number of individuals.

Other

A small number of individuals with Hallermann-Streiff syndrome have heart defects (such as a hole in the heart). There has also been a report of an individual with a weakened immune system.

Diagnosis

The diagnosis of Hallermann-Streiff syndrome is based on the presence of certain features including the characteristic facial, eye, dental, hair, and skin findings. The main features indicative of Hallermann-Streiff syndrome include a small, wide head with a prominent forehead, the characteristic small jaw and mouth with a pinched nose, cataracts, small eyes, dental abnormalities, sparse or absent hair, thin skin, and short stature. X rays of the bones of the body may be helpful in establishing a diagnosis of Hallermann-Streiff syndrome because there are characteristic changes evident in the bones of individuals with this condition. There is no laboratory test which can be done to confirm the diagnosis. Genetic testing to identify the specific genetic alteration causing the condition is not available since the gene for Haller-mann-Streiff syndrome has not been identified. Testing for Hallermann-Streiff syndrome in an unborn baby has not been done. It may be possible to detect the abnormal head shape and small chin on ultrasound (sound wave picture) of the developing baby but this has not been documented in the literature.

Treatment and management

There is no cure for Hallermann-Streiff syndrome. In general, an individual with Hallermann-Streiff syndrome requires a team of specialized doctors for treating the various problems which can occur. Assessments by a dentist, dental surgeon, and oral-facial surgeon may also be necessary to evaluate the teeth and difficulties caused by the small chin and mouth. An assessment for possible airway problems is essential. Any individual with Haller-mann-Streiff syndrome who shows signs of daytime sleepiness or snoring should be referred to a sleep center for proper diagnosis and treatment of possible obstructive sleep apnea. Treatment for this condition may include surgical procedures such as making a hole in the trachea through the neck to relieve whatever is obstructing the breathing (tracheotomy). Other surgical treatments may include advancing the chin, reducing the size of the tongue, and/or removing the tonsils. Non-surgical treatments may include medications, providing the individual with an oxygen mask, and modifying his or her sleeping position.

An individual with Hallermann-Streiff syndrome should be examined by an eye specialist (ophthalmologist) for signs and symptoms of eye problems. Surgery for some types of eye problems (cataracts, crossed eyes) may be necessary. Individuals who are blind or at risk to lose their eyesight may benefit from being referred to an association for the blind for guidance and counseling.

An examination by a heart specialist (cardiologist) for possible heart problems and by an immune specialist (immunologist) for possible decreased immune function is also recommended. Some types of heart problems may be treated with medications or may require surgical correction.

For individuals with developmental delay or mental impairment, treatment may include special education, speech therapy, occupational therapy, and physical therapy. Drugs may be used to treat hyperactivity, seizures, and other problems.

Some individuals with Hallermann-Streiff syndrome may seek cosmetic surgery for the various effects the syndrome has on the face and skull. Counseling by psychologists may also help individuals with Hallermann-Streiff syndrome cope with the psychological impact of having a facial difference.

Individuals with Hallermann-Streiff syndrome and their families may also benefit from genetic counseling for information on the condition and recurrence risks for future pregnancies.