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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 oculomandibulofacial syndrome, François dyscephalic syndrome, Hallermann–Streiff–François syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome, and Ullrich-Fremery-Dohna 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]

Presentation[edit]

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[edit]

It may be associated with GJA1.[5]

Eponym[edit]

It is named for Wilhelm Hallermann and Enrico Streiff.[6][7][8]

References[edit]

  1. ^ Germany based Schattenkinder e.V.
  2. ^ 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. 
  3. ^ 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. 
  4. ^ Malde AD, Jagtap SR, Pantvaidya SH (1994). "Hallermann-Streiff syndrome: airway problems during anaesthesia". J Postgrad Med 40 (4): 216–8. PMID 9136243. 
  5. ^ 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. 
  6. ^ synd/1767 at Who Named It?
  7. ^ W. Hallermann. Vogelgesicht und Cataracta congenita. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1948, 113: 315–318.
  8. ^ E. B. Streiff. Dysmorphie mandibulo-faciale (tête d’oiseau) et alterations oculaires. Ophthalmologica, Basel, 1950, 120: 79–83.

External links[edit]



Original courtesy of Wikipedia: http://en.wikipedia.org/wiki/Hallermann–Streiff_syndrome — Please support Wikipedia.
This page uses Creative Commons Licensed content from Wikipedia. A portion of the proceeds from advertising on Digplanet goes to supporting Wikipedia.
7 videos found

Sam and Jack share Hallerman Streiff secrets

Sam and Jack meet for the first time April 2009. Two boys with Hallerman Streiff Syndrome.

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What will happen if Medicaid cuts happen and critically ill children in Illinois lose their funding? Mary and Brad Kish, parents of Michelle, share their fea...

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Hallermann-Streiff syndrome.

Niño de 12 años padece extraño mal y necesita apoyo - Trujillo

Padece del sindrome Hallerman Streiff - 22/Nov/09.

"Maja exklusiv" MDR Maja von Hohenzollern trifft Schattenkinder e.V. /Studio-Interview

Seit vielen Jahren engagiert sich Maja v.Hohenzollern für Kinder in Not. Die Kinder des Schattenkinder e.V., die an einem seltenen Gendefekt, dem Hallermann-...

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Max's Craniosynostosis Surgery. Children's Hospital of Philadelphia. July 2010. Muenke syndrome.

My Montage 2/21/10

Grupo N.10 Sindrome hallerman Streiff!

 
7 videos found

5 news items

 
Military Times
Tue, 12 Aug 2014 06:38:39 -0700

Ouillette notes points out, though, that some of the rare genetic diseases considered service-connected on the mother's side, like Williams syndrome and Hallermann-Streiff syndrome, have appeared in children of make Vietnam vets but are not considered ...

St. Catharines Standard

St. Catharines Standard
Thu, 08 May 2014 17:22:30 -0700

The single parent moved to Niagara with his son and three-year-old daughter Neveah to be closer to treatment for Robbie, who suffers from Hallermann-Streiff syndrome, a congenital disorder that affects growth, cranial development, hair growth and ...
 
CBS Local
Thu, 26 Sep 2013 19:26:36 -0700

It doesn't matter what genes your parents have, but when someone gets Hallermann–Streiff syndrome, it affects their height, their hair growth, their vision…just any bone or muscular growth that needs to occur is not occurring at the right speed,” he said.
 
Chicago Tribune
Fri, 07 Dec 2012 17:43:44 -0800

Michelle was born with a rare genetic disorder, Hallermann-Streiff syndrome, a cranio-facial condition that also can cause heart, stomach and lung problems. She is legally blind. She is tube-fed, and she needs a ventilator to breathe up to 12 hours a ...
 
Irish Independent
Wed, 01 Jun 2011 21:24:15 -0700

Janet explained her son was born at 29 weeks with the rare genetic disorder, Hallermann-Streiff syndrome, which affects his facial appearance and blocked his airways. She hopes Anthony will soon be able to go to school and live a normal life. She ...
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