Hallermann Streiff Syndrome synonyms
What other names are the Hallermann Streiff Syndrome known by? Synonyms and other terms with which Hallermann Streiff Syndrome is known.
Hallermann-Streiff syndrome, also known as oculomandibulofacial syndrome, is a rare genetic disorder characterized by a distinctive combination of facial and skeletal abnormalities. This syndrome was first described by Wilhelm Hallermann and Enrico Streiff in the 1940s.
Individuals with Hallermann-Streiff syndrome typically have a characteristic facial appearance, including a small jaw (micrognathia), a beaked nose, and a thin upper lip. They may also have a prominent forehead, widely spaced eyes (hypertelorism), and underdeveloped or missing teeth. The syndrome is also associated with vision problems, such as cataracts, glaucoma, and microphthalmia.
In addition to the facial features, individuals with Hallermann-Streiff syndrome may have skeletal abnormalities, such as a small stature, thin bones, and joint stiffness. They may also have respiratory problems, including chronic obstructive pulmonary disease (COPD) and sleep apnea.
The exact cause of Hallermann-Streiff syndrome is unknown, but it is thought to be caused by mutations in the RECQL4 gene. This gene provides instructions for making a protein that is involved in DNA repair and maintenance. Mutations in this gene disrupt the normal functioning of the protein, leading to the signs and symptoms of the syndrome.
There is currently no cure for Hallermann-Streiff syndrome, and treatment focuses on managing the symptoms and complications associated with the disorder. This may include regular eye examinations, dental care, and respiratory support if needed. Physical and occupational therapy may also be beneficial in managing the skeletal abnormalities and improving mobility.
In conclusion, Hallermann-Streiff syndrome, also known as oculomandibulofacial syndrome, is a rare genetic disorder characterized by distinct facial and skeletal abnormalities. It is associated with vision problems, respiratory issues, and is caused by mutations in the RECQL4 gene. While there is no cure, treatment aims to manage symptoms and improve quality of life.
