A very rare multiple congenital anomalies syndrome characterized by short stature facial dysmorphism (elongated face hypertelorism broad and high nasal bridge mild epicanthus posteriorly angulated ears narrow and high-arched palate) skeletal anomalies (mesomelic brachymelia short broad hands prominent finger pads short stubby thumbs hyperextensibility of small joints small feet) hypernasality and normal intelligence. Delayed bone age has also been reported.
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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Syndromes Without A Name (SWAN) Australia
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