Hallermann-Streiff syndrome (HSS)

What is Hallermann-Streiff syndrome (HSS)?

This rare disease is a genetic syndrome with a wide variety of symptoms.

These symptoms include abnormalities to the skull and craniofacial regions, as well as ocular (eye) and dental abnormalities.

The syndrome was first recorded in 1893, and there have been 150 reported cases of the syndrome, to date.

What gene changes cause Hallermann-Streiff syndrome (HSS)?

The syndrome is believed to be caused by new genetic mutations that have not yet been identified.

The mode of inheritance is also currently unknown.

What are the main symptoms of Hallermann-Streiff syndrome (HSS)?

The syndrome has a number of features and symptoms which may vary between individuals.

Unique physical characteristics of the symptom include deformities to the skull and craniofacial areas.

The facial features of this syndrome include a short and broad head, a prominent forehead, and prominent lower jaw. A high arched palate, very small eyes and a thin, tapered nose are also facial features of the syndrome.

Individuals may also be affected by changes to the skin, especially on the scalp and nose. They may also have sparse scalp hair. Dental defects are also common, including the delayed eruption of teeth.

Conditions relating to the eyes are characteristic to the syndrome, and these might include congenital cataracts (a clouding of the eyes).

How does someone get tested for Hallermann-Streiff syndrome (HSS)?

The initial testing for Hallermann-Streiff syndrome (HSS) can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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