General Information About Hallermann-Streiff Syndrome
Disease Details and Frequently Asked Questions
It is a rare, congenital genetic syndrome that primarily affects head-face (craniofacial) development, eye health, teeth, and body growth.
The most typical symptom is a thin, small, beak-like nose and a small lower jaw (bird-like facial appearance). It is accompanied by sparse hair, congenital cataracts, small eye structure, and short stature.
The genetic basis of the disease has not yet been fully deciphered. In most cases, the parents do not have the disease; it occurs spontaneously as a result of a new (de novo) mutation in the sperm or egg.
In the vast majority of patients, intellectual (cognitive) development is completely normal. Mild learning difficulties have been reported in very rare cases.
Due to the very small facial and jaw structure, airway obstruction and feeding difficulties are its most serious complications, especially during infancy.
There is no genetic cure. Early on, support or surgery is provided to keep the airway open. Congenital cataracts are surgically corrected by ophthalmologists. In later years, orthodontics and aesthetic jaw surgeries are performed.
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