epocrates
Zebra of the Week: Hallermann-streiff syndrome
Hallermann-Streiff syndrome is a rare congenital disorder 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. Fewer than 50,000 people in the U.S. have this syndrome, and symptoms may begin to appear as a newborn and as an infant.
Source:
NIH: Genetic and Rare Diseases Information Center. (Accessed 2024, December 20). Hallermann-streiff syndrome. https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome