Orphanet: Upper limb defect eye and ear abnormalities syndrome

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Disease definition

A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.

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Upper limb defect-eye and ear abnormalities syndrome

ORPHA:2489

A summary on this disease is available in Deutsch (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

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