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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hallermann-Streiff syndrome


Other Names for this Disease

  • Francois dyscephalic syndrome
  • Hallermann Streiff Francois syndrome
  • Hallermann Streiff syndrome
  • HSS
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Symptoms

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What are the signs and symptoms of Hallermann-Streiff syndrome?

The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals.[1] The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnormalities); ocular (eye) abnormalities; dental abnormalities; and/or short stature.[1]

Craniofacial features may include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal bossing); a small, underdeveloped lower jaw (micrognathia); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose (beaked nose).[2] Ocular abnormalities may include clouding of the lenses of the eyes at birth (congenital cataracts); unusually small eyes (microphthalmia); and/or other abnormalities.[2]

Dental defects may include the presence of teeth at birth (natal teeth) and/or absence, malformation, or improper alignment of teeth.[2] Hypotrichosis (sparse hair) is present in about 80 percent of affected individuals. Other features may include skin atrophy of the face, and/or hypoplasia (underdevelopment) of the clavicles and ribs. Intellectual disability is present in some cases (approximately 15 percent).[3][4] In many cases, additional abnormalities are present.[1]
Last updated: 7/23/2012

References
  1. Hallermann Streiff Syndrome. NORD. April 11, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/498/viewAbstract. Accessed 7/23/2012.
  2. Graham JM. Hallermann Streiff Syndrome. National Organization for Rare Disorders (NORD). 2008; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hallermann%20Streiff%20Syndrome. Accessed 3/19/2010.
  3. Hallerman-Streiff Syndrome. Online Mendelian Inheritance in Man (OMIM). 2010; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=234100. Accessed 3/19/2010.
  4. Hallermann-Streiff-Fran├žois syndrome. Orphanet. March 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2108. Accessed 7/23/2012.


Other Names for this Disease
  • Francois dyscephalic syndrome
  • Hallermann Streiff Francois syndrome
  • Hallermann Streiff syndrome
  • HSS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.