Hallermann-Streiff syndrome (HSS). Oculomandibulofacial syndrome. Birdlike facies.
Incidence
Most cases are sporadic. Listed in OMIM in the autosomal recessive catalog.
Clinical Characteristics
Hallermann-Streiff syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye (ocular) abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and/or short stature (i.e., dwarfism). Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal and/or parietal bossing); 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); unusually small eyes (microphthalmia); and/or other ocular abnormalities. Dental defects may include the presence of certain teeth at birth (natal teeth) and absence (hypodontia or partial adontia), malformation, and/or improper alignment of teeth. In almost all cases, Hallermann-Streiff syndrome has appeared to occur randomly for unknown reasons (sporadically) and may be the result of a new change to genetic material (mutation). In summary, it is characterized by bulging skull with brachycephaly, beaked nose, cataracts, microphthalmia and receding chin giving the face its peculiar bird-like appearance. Associated defects include hypotrichosis, short stature, occasional mental deficiency and skeletal, hepatic, muscular, and renal anomalies.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis.