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. An organisation supporting people with the Hallermann–Streiff syndrome is the Germany based "Schattenkinder e.V."
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 and glaucoma.
It can be associated with sleep apnea.
It can complicate intubation.
It may be associated with GJA1.
It is named for Wilhelm Hallermann and Enrico Streiff.
- ^ 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.
- ^ 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.
Mon, 22 Dec 2014 09:13:40 -0800
Timothy is a 10-year-old African-American child arriving for a general maintenance appointment. His mother assists in giving you an appraisal of his health and past dental treatment. The past dental history appears to be insignificant except for ...
St. Catharines Standard
St. Catharines Standard
Thu, 08 May 2014 17:28:18 -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 ...
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.
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 ...
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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