Hallermann Streiff Syndrome
National Organization for Rare Disorders, Inc.
- Francois dyscephaly syndrome
- Hallermann Streiff François syndrome
- oculomandibulodyscephaly with hypotrichosis
- oculomandibulofacial syndrome
Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (dyscephaly); a small, underdeveloped lower jaw (hypoplastic mandible); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose. Many affected individuals also have clouding of the lenses of the eyes at birth (congenital cataracts or corneal stromal opacities); unusually small eyes (microphthalmia); and/or other ocular abnormalities. Dental defects may include natal or neonatal teeth, absent permanent teeth (hypodontia or partial adontia), abnormal tooth development resulting in short roots and early loss of teeth, and/or improper alignment of teeth. In almost all cases, HSS has appeared to occur randomly for unknown reasons (sporadically), and this syndrome is thought to be the result of a new change to genetic material (mutation).
Hallermann-Streiff syndrome was first described in the medical literature in 1893. The disorder was named for two investigators who later independently reported cases of the syndrome, recognizing it as a distinct disease entity.
National Foundation for Ectodermal Dysplasias
6 Execuitive Drive
Fairview Hiights, IL 62208
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02272-0317
Little People of America, Inc.
250 El Camino Real Suite 201
Tustin, CA 92780
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
Institute for Families
4650 Sunset Blvd Mail stop 111
Los Angeles, CA 90027
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Hallerman-Streiff Syndrome Resource
3524 Blenheim Road
Phoenix, MD 21131
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Last Updated: 4/11/2012
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