Global developmental delay-osteopenia-ectodermal defect syndrome
A rare genetic disease characterized by global developmental delay with language and cognition deficiencies behavioral problems osteopenia joint laxity skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas and abnormal hair structure. Mild facial dysmorphism (prominent forehead thick eyebrows epicanthal folds broad nasal bridge long philtrum and micrognathia) abnormalities of the teeth and skeletal and cardiac anomalies have also been described.
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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Global developmental delay-osteopenia-ectodermal defect syndrome?
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