Who has Hallermann-Streiff?
Hallermann–Streiff syndrome is a congenital disorder that affects growth, cranial development, hair-growth, and dental development. There are fewer than 200 people with the syndrome worldwide. One notable organization that is supporting people with Hallermann–Streiff syndrome is the Germany-based “Schattenkinder e.V”.
What causes Hallermann-Streiff?
In almost all reported cases, Hallermann-Streiff syndrome has occurred randomly for unknown reasons (sporadically), most likely due to a new spontaneous dominant genetic change (mutation). There have been reports of patients with this disorder reproducing successfully and bearing multiple normal children.
What are the symptoms of Hallermann-Streiff syndrome?
Hallermann-Streiff syndrome (HSS) is a very rare genetic disorder that has a characteristic facial appearance, dental abnormalities, hypotrichosis, skin atrophy, proportionate short stature, and ophthalmic features such as microphthalmia and congenital bilateral cataracts.
What is the world’s rarest syndrome?
According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.
What syndrome causes close set eyes?
Most babies with severe nonsyndromic holoprosencephaly die before birth or soon after. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). The life expectancy of these affected individuals varies depending on the severity of symptoms.
Who has Prader-Willi syndrome?
Prader-Willi syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as the most common genetic cause of life-threatening childhood obesity.
What is the rarest body feature?
The rare body feature distichiasis is, according to the American Academy of Ophthalmology, a “condition in which an extra row of eyelashes emerges from the ducts of meibomian glands.” It results from a genetic mutation of the FOXC2 gene.
What is Hallermann Streiff syndrome?
Summary Summary. Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature.
What are the possible complications of Hallermann-Streiff syndrome?
Also, because individuals with Hallermann-Streiff syndrome have malformed teeth with abnormal roots and enamel hypoplasia, they are predisposed to developing severe dental caries making it imperative to ensure good dental hygiene.
How is Hallermann-Streiff syndrome (HST) diagnosed?
Diagnosis is based on the physical characteristics and symptoms. There is no established clinical genetic testing for Hallermann–Streiff syndrome, however some laboratories offer research genetic testing for the condition. There is no cure for Hallermann–Streiff syndrome.
What is the genetic cause of Hallerman-Streiff syndrome?
The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous ( de novo) genetic change ( mutation ).  Hallermann-Streiff syndrome does not appear to be inherited in families, although this remains unclear.