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VIDEO: She Is Literally One in Five Million

Michelle was diagnosed with Hallermann-Streiff syndrome and she is literally one in five million.

She is a fighter and refuses to let the condition affect her life.

She hopes to one day meet a long-haired man who is in touch with his emotions.

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Until then, Michelle will be patiently waiting with her dog, Piper, keeping her company.

According to rarediseases.info.nih.gov, 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. Intellectual disability is present in some individuals.

Almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. Treatment is symptomatic and supportive.

The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual.

The majority of cases of Hallermann-Streiff syndrome appear to be sporadic (occurring in individuals with no history of the condition in the family). There have been reports of affected individuals having multiple, unaffected children.

Although some have reported it appears to be inherited in an autosomal recessive manner in a small number of cases, others have argued that there is little evidence for this being a recessively inherited disorder. Therefore, the mode of inheritance of the condition remains unclear.

The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals. The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnormalities); ocular (eye) abnormalities; dental abnormalities; and/or short stature.

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Craniofacial features may include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal bossing); a small, underdeveloped lower jaw (micrognathia); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose (beaked nose).

Ocular abnormalities may include clouding of the lenses of the eyes at birth (congenital cataracts); unusually small eyes (microphthalmia); and/or other abnormalities.

Dental defects may include the presence of teeth at birth (natal teeth) and/or absence, malformation, or improper alignment of teeth. Hypotrichosis (sparse hair) is present in about 80 percent of affected individuals.

Other features may include skin atrophy of the face, and/or hypoplasia (underdevelopment) of the clavicles and ribs. Intellectual disability is present in some cases (approximately 15 percent). In many cases, additional abnormalities are present.

Treatment for Hallermann-Streiff syndrome depends on the specific signs and symptoms present in each affected individual. Early disease management for infants may include monitoring of breathing, consideration of tracheostomy, and various measures to improve feeding and ensure sufficient intake of nutrients.

Although early surgical removal of cataracts may be recommended to help preserve vision, some studies have suggested that spontaneous cataract absorption may occur in up to 50% of untreated patients. Regular appointments with an ophthalmologist are strongly recommended to identify and treat other eye abnormalities, some of which may require surgical intervention.

 

Joanna Grey

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