Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome?
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