Hallermann-Streiff syndrome

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Synonyms: François dyscephalic syndrome | Oculomandibulofacial syndrome

Hallermann-Streiff syndrome is a rare genetic syndrome 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Hallermann-Streiff syndrome?

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