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Question: Symptoms - Hallermann Streiff Syndrome
Answer: The main features of Hallermann-Streiff syndrome include an unusually shaped skull and face, and abnormalities of the eyes, teeth, skin and hair. Many of the features are apparent at birth and vary from individual to individual.
Some of the most common features include:[1][2]
- Short, broad head (brachycephaly) or small head (microcephaly)
- Prominent forehead and/or sides of the skull (frontal bossing)
- Small lower jaw (micrognathia)
- Clouding of the lenses of the eyes at birth (congenital cataracts)
- Unusually small eyes (microphthalmia)
- Absent, malformed, or improperly aligned teeth
- Sparse, thin hair (hypotrichosis)
- Skin atrophy
- Short stature
Because Hallermann-Streiff syndrome is so rare, not much is known about how this condition changes throughout life. Issues with premature aging and difficulty with airway management have been reported. Most people with this condition have normal intelligence.[2][3][4]
(Source: Genetic and Rare Diseases Information Center (GARD), 10 Dec 2020)
Source Link: https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome#diseaseGardAnswersSection