Hallermann-Streiff syndrome: Difference between revisions
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'''Hallermann-Streiff syndrome''' (also known as the '''François Dyscephalic Syndrome''', '''Hallermann-Streiff-François syndrome''', '''Oculomandibulodyscephaly with hypotrichosis''' and '''Oculomandibulofacial syndrome''') is a [[congenital disorder]] that affects growth, [[head (anatomy)|cranial development]], [[hair]] growth and [[tooth|dental development]]. | '''Hallermann-Streiff syndrome''' (also known as the '''François Dyscephalic Syndrome''', '''Hallermann-Streiff-François syndrome''', '''Oculomandibulodyscephaly with hypotrichosis''' and '''Oculomandibulofacial syndrome''') is a [[congenital disorder]] that affects growth, [[head (anatomy)|cranial development]], [[hair]] growth and [[tooth|dental development]]. | ||
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{{Congenital malformations and deformations of ear, face and neck}} | {{Congenital malformations and deformations of ear, face and neck}} | ||
{{Congenital malformations and deformations of musculoskeletal system}} | {{Congenital malformations and deformations of musculoskeletal system}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] |
Latest revision as of 15:47, 9 August 2012
Hallermann-Streiff syndrome | |
ICD-9 | 756.0 |
---|---|
OMIM | 234100 |
DiseasesDB | 32617 |
MeSH | D006210 |
Hallermann-Streiff syndrome (also known as the François Dyscephalic Syndrome, Hallermann-Streiff-François syndrome, Oculomandibulodyscephaly with hypotrichosis and Oculomandibulofacial 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. An organisation supporting people with the Hallermann Streiff Syndrome is the Germany based "Schattenkinder e.V."[1]
Presentation
Patients with this syndrome are shorter than the average person and may not develop hair in many places, including in the facial, leg and pubic areas. Patients also have eye problems including clouded or reduced eye size, bilateral cataracts[2] and glaucoma.
It can be associated with sleep apnea.[3]
It can complicate intubation.[4]
Eponym
It is named for Wilhelm Hallermann and Enrico Streiff.[5][6][7]
References
- ↑ Germany based Schattenkinder e.V.
- ↑ Ertekin V, Selimoğlu MA, Selimoğlu E (2004). "Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case". Ann. Genet. 47 (4): 387–91. doi:10.1016/j.anngen.2004.03.005. PMID 15581837.
- ↑ Shiomi T, Guilleminault C, Izumi H, Yamada S, Murata K, Kobayashi T (1999). "Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome". Eur. Respir. J. 14 (4): 974–7. PMID 10573253. Unknown parameter
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ignored (help) - ↑ Malde AD, Jagtap SR, Pantvaidya SH (1994). "Hallermann-Streiff syndrome: airway problems during anaesthesia". J Postgrad Med. 40 (4): 216–8. PMID 9136243.
- ↑ Template:WhoNamedIt
- ↑ W. Hallermann. Vogelgesicht und Cataracta congenita. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1948, 113: 315-318.
- ↑ E. B. Streiff. Dysmorphie mandibulo-faciale (tête d’oiseau) et alterations oculaires. Ophthalmologica, Basel, 1950, 120: 79-83.