Holoprosencephaly-radial heart renal anomalies syndrome

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Holoprosencephaly-radial heart renal anomalies syndrome

Synonyms: Steinfeld syndrome

A rare multiple congenital anomalies syndrome characterised by holoprosencephaly predominantly radial limb deficiency (absent thumbs phocomelia) heart defects kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies cleft lip/palate microphthalmia absent nose dysplastic ears hearing loss colobomas of the iris and retina and/or bifid uvula.

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 April 2024

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