The characteristic "bird-like" facies syndrome is described by typical features including brachicephaly, frontal bossing, micro-retro-gnathia, microphtalmia (small eyes) and beaked nose.
The reduced dimension of the mouth due to the micro-retro-gnathia often leads to glossoptosis (falling back tongue). Together with small nostrils (and often tracheomalacia) the glossoptosis can cause severe respiratory problems, especially in the first months of life.
This makes airways obstruction a major issue in the affected child's treatment, which is often to be addressed by surgery.
References
Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B. A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. Hum Mutat. 2004 Mar;23(3):286.
Mirshekari A, Safar F. Hallermann-Streiff syndrome: a case review. Clin Exp Dermatol. 2004 Sep;29(5):477-9. Review.PMID: 15347328
David LR, Finlon M, Genecov D, Argenta LC. Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. J Craniofac Surg. 1999 Mar;10(2):160-8. Review.PMID: 10388418
David LR, Finlon M, Genecov D, Argenta LC. Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. J Craniofac Surg. 1999 Mar;10(2):160-8. Review. PMID: 10388418
OMIM 234100, aggiornato il 12 maggio 2010, consultato il 13 luglio 2010.
Orphanet, Hallermann-Streiff-Francois syndrome, Marzo 2006. Consultato il 13 luglio 2010.
Harper PS, Practical Genetic Counselling, 6th edition, Hodder-Arnold ed. 2004.
