About Hallermann Streiff Syndrome

What is Hallermann Streiff Syndrome?

Hallermann Streiff Syndrome (HSS) is a rare genetic disorder characterized by a combination of physical abnormalities, including facial dysmorphism, skeletal malformations, and ocular abnormalities. It is caused by a mutation in the POF1B gene. Symptoms may include a small head, sparse hair, a beaked nose, and a small jaw. Other features may include hearing loss, dental abnormalities, and intellectual disability. Treatment is symptomatic and may include physical therapy, speech therapy, and occupational therapy.

What are the symptoms of Hallermann Streiff Syndrome?

The most common symptoms of Hallermann Streiff Syndrome include:

-Dwarfism
-Microcephaly (abnormally small head)
-Prominent forehead
-Wide-set eyes
-Down-slanting eyelids
-Small, low-set ears
-High-arched palate
-Thin upper lip
-Short, upturned nose
-Receding chin
-Hair loss
-Dental abnormalities
-Cleft lip and/or palate
-Heart defects
-Kidney abnormalities
-Hearing loss
-Vision problems
-Delayed development
-Intellectual disability

What are the causes of Hallermann Streiff Syndrome?

Hallermann Streiff Syndrome is a rare genetic disorder caused by a mutation in the POF1B gene. It is an autosomal recessive disorder, meaning that both parents must carry the mutated gene in order for the child to be affected. There is no known cause for the mutation.

What are the treatments for Hallermann Streiff Syndrome?

The treatments for Hallermann Streiff Syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the physical and developmental issues associated with the syndrome. This may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include vision and hearing aids, nutritional supplements, and medications to help with seizures, breathing problems, and other medical issues.

What are the risk factors for Hallermann Streiff Syndrome?

The exact cause of Hallermann Streiff Syndrome is unknown, but it is believed to be a genetic disorder. Risk factors for Hallermann Streiff Syndrome include:

• Family history of the disorder
• Being of a certain ethnic background, such as French Canadian or Ashkenazi Jewish
• Being a female
• Having a parent with a chromosomal abnormality
• Having a parent with a genetic mutation that affects the FOXE3 gene

Is there a cure/medications for Hallermann Streiff Syndrome?

At this time, there is no cure for Hallermann-Streiff Syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, and medications to help with vision, hearing, and breathing problems.