Hallermann-Streiff syndrome

Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.

Micrognathia

Developmental hypoplasia of the mandible.

Total: 3

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PMID (PMCID)
15581837	MALE	Infant
	Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case.
	Ertekin V, Selimoglu MA, Selimoglu E. Ann Genet. 2004;47(4):387-91.
	The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.
7491335	MALE	Infant, Newborn
	[A case of Hallermann-Streiff syndrome with rapidly fatal course].
	Romeo MG, Betta P, Rodono A, Tina LG, Di Bella D, D'Amico P, Distefano G. Pediatr Med Chir. 1995;17(4):365-8.
	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, cataracts, micrognathia and proportionate short stature.
8063190	MIXED_SAMPLE	Infant, Newborn
	[Hallermann-Streiff syndrome and pregnancy. Report of a case].
	Cabral Castaneda FJ, Orozco Quiyono M, Ibarguengoitia Ochoa F, Carballar Lopez G, Karchmer S. Ginecol Obstet Mex. 1994;62:207-10.
	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.