Synonyms: Hamamy syndrome
A rare genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly prominent forehead sparse lateral eyebrows severe hypertelorism upslanting palpebral fissures epicanthal folds protruding ears broad nasal bridge pointed nasal tip flat philtrum anteverted nostrils large mouth thin upper vermilion border highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures severe myopia mild to moderate sensorineural or mixed hearing loss enamel hypoplasia sloping shoulders and mild intellectual disability.
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 September 2024
Newly diagnosed with
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.