Hallermann-Streiff syndrome is a rare congenital disorder characterized by a combination of craniofacial, dental, and skeletal abnormalities. It is named after Wilhelm Hallermann and Enrico Streiff, the first researchers to describe the syndrome.
In terms of craniofacial features, individuals with Hallermann-Streiff syndrome usually have a small head with a prominent forehead, a flat nasal bridge, underdeveloped eye sockets leading to small eyes, and a beaked nose. They may also have dental abnormalities such as abnormally small or missing teeth and malocclusion. Skeletal abnormalities may include short stature, thin bones, and joint deformities.
The syndrome typically presents at birth or early childhood. Along with the physical characteristics, individuals with Hallermann-Streiff syndrome may also experience ophthalmological issues such as cataracts, glaucoma, and reduced visual acuity. Additional reported symptoms include respiratory difficulties, hearing loss, and intellectual disability, although the severity of these symptoms can vary widely among affected individuals.
Hallermann-Streiff syndrome is believed to be caused by genetic mutations, although the exact underlying mechanisms are not yet fully understood. It is a sporadic disorder, meaning that it usually occurs randomly and is not inherited from parents.
Due to the diverse range of symptoms and potential complications associated with Hallermann-Streiff syndrome, management typically involves multidisciplinary care, addressing the various medical and developmental needs of the affected individual. Genetic counseling may also be offered to families, as there is a small risk of recurrence in subsequent pregnancies.
