Hallermann–Streiff syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
Synonyms and keywords: oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann–Streiff–François syndrome; oculomandibulodyscephaly with hypotrichosis; Aubry syndrome and Ullrich-Fremery-Dohna syndrome
Overview
Hallermann–Streiff 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.[citation needed] An organization 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 eyes or reduced eye size, bilateral cataracts[2] and glaucoma.
It can be associated with sleep apnea.[3]
It can complicate intubation.[4]
Genetics
It may be associated with GJA1.[5]
Eponym
It is named for Wilhelm Hallermann and Enrico Streiff.[6][7][8]
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 (October 1999). "Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome". Eur. Respir. J. 14 (4): 974–7. doi:10.1034/j.1399-3003.1999.14d42.x. PMID 10573253.
- ↑ Malde AD, Jagtap SR, Pantvaidya SH (1994). "Hallermann-Streiff syndrome: airway problems during anaesthesia". J Postgrad Med. 40 (4): 216–8. PMID 9136243.
- ↑ Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B (March 2004). "A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype". Hum. Mutat. 23 (3): 286. doi:10.1002/humu.9220. PMID 14974090.
- ↑ 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.
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- Ailments of unknown etiology
- Rare diseases
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- Congenital disorders of eye, ear, face and neck
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