Hallermann Streiff Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Hallermann-Streiff-Syndrome ( HSS for short , other names: Vogelkrankheit , Hallermann-Streiff- François Syndrome , English: Oculomandibulodyscephaly with hypotrichosis , Oculomandibulofacial Syndrome ) a rare, sporadic malformation syndrome in humans. Only about one hundred cases are described in the literature. But there are also reports of familial frequency.
Affected people have, among other things, a proportionately short stature , a special face shape with a very small, beak-like curved nose and a small lower jaw ( micrognathia ), congenital eye malformations with an eyeball that is too small ( microphthalmia ) and clouding of the lenses ( congenital cataract ) as well as thinning hair. The tongue of people with HSS tends to grow to a normal size, so it is disproportionately large in relation to the small body. This often leads to problems with eating and breathing. Due to the malformed eyes, there is usually severe visual impairment or even blindness . A cognitive disability can be associated with the HSS .
The genetic cause of HSS is unknown. Due to the rarity of the HSS, scientific studies on this topic usually consist of comparisons of individual cases.
Individual evidence
- ^ Hallermann-Streiff syndrome. Orphanet, March 2006, accessed August 1, 2017 .
- ↑ E. Epée, D. Beleho, AT Bitang, VA Njami, C. Bengondo, C. Ebana Mvogo: A study of familial Hallermann-Streiff-François syndrome. In: Int Med Case Rep J . tape 10 , 2017, p. 193-201 .
