- Hallermann–Streiff syndrome
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Hallermann–Streiff syndrome Classification and external resources 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.[citation needed] An organisation supporting people with the Hallermann Streiff Syndrome is the Germany based "Schattenkinder e.V."[1]
Contents
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. http://linkinghub.elsevier.com/retrieve/pii/S000339950400036X.
- ^ 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. http://erj.ersjournals.com/cgi/pmidlookup?view=long&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. http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1994;volume=40;issue=4;spage=216;epage=8;aulast=Malde.
- ^ 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.
- ^ synd/1767 at Who Named It?
- ^ 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.
BaHammam AS. Sleep from an Islamic perspective. Ann Thorac Med 2011;6:187-92
- BaHammam AS. Sleep from an Islamic perspective. Ann Thorac Med 2011;6:187-92==External links==
- Jablonski's Syndrome Database
Congenital malformations and deformations of face and neck (Q18, 744.4–744.9) Face Neck Ungrouped Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3) Appendicular
limb / dysmeliahand deformity:Lowerhip:knee:Genu valgum · Genu varum · Genu recurvatum · Discoid meniscus · Congenital patellar dislocation · Congenital knee dislocationfoot deformity:Either / bothdactyly / digit:reduction deficits / limb:multiple joints:Axial Craniofacial dysostosis:other:spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta · SacralizationThoracic skeletonribs:sternum:M: JNT
anat(h/c, u, t, l)/phys
noco(arth/defr/back/soft)/cong, sysi/epon, injr
proc, drug(M01C, M4)
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