Share 2. In total, she has 26 of the 28 symptoms of Hallermann-Streiff syndrome, including craniofacial abnormalities, a small beak-like nose, a recessed chin, bilateral cataracts and frontal bossing of the forehead. She also has a number of the secondary characteristics, such as dwarfism, cardiomyopathy, chronic pulmonary lung disease, microgastria, fragile bones and alopecia. But despite the medical hurdles she faces, Miss Kish has flourished into a warm, bubbly adult, who loves playing piano, playing games on her iPad and spending time with her dog Piper.
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Hallermann-Streiff Syndrome HSS 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 other Names for this Condition? Who gets Hallermann-Streiff Syndrome? Age and Sex Distribution Hallermann-Streiff Syndrome is a rare disorder that manifests at birth Both males and females may be affected Worldwide, individuals of all racial and ethnic groups may be affected What are the Risk Factors for Hallermann-Streiff Syndrome?
Predisposing Factors Currently, no risk factors have been clearly identified for Hallermann-Streiff Syndrome It is important to note that having a risk factor does not mean that one will get the condition. Some risk factors are more important than others. Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider. What are the Causes of Hallermann-Streiff Syndrome?
Etiology 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.
The signs and symptoms of Hallermann-Streiff Syndrome may include: Abnormality of the hand.