Hallermann-Streiff syndrome
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 April 2024
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Hallermann-Streiff syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Clinical Trials
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