Upper limb defect-eye and ear abnormalities syndrome

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Upper limb defect-eye and ear abnormalities syndrome

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.

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 May 2024

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Upper limb defect-eye and ear abnormalities syndrome?

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