Hallermann Streiff Syndrome
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NORD is very grateful to John M. Graham, Jr., MD, ScD, Director of Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center, for assistance in the preparation of this report.
Synonyms of Hallermann Streiff Syndrome
- Francois dyscephaly syndrome
- Hallermann Streiff François syndrome
- oculomandibulodyscephaly with hypotrichosis
- oculomandibulofacial syndrome
- No subdivisions found.
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.
Hallermann Streiff Syndrome Resources
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., visual handicaps, short stature, craniofacial malformations, etc.].)
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