Anophthalmia plus syndrome

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Anophthalmia plus syndrome

Synonyms: Fryns microphthalmia syndrome | Microphthalmia with facial clefting

A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia cleft lip/palate facial cleft and sacral neural tube defects along with various additional anomalies including congenital glaucoma iris coloboma primary hyperplastic vitreous hypertelorism low-set ears clinodactyly choanal atresia/stenosis dysgenesis of sacrum tethering of spinal cord syringomyelia hypoplasia of corpus callosum cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.

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 Data version April 2024

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Anophthalmia plus syndrome?

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