Anophthalmia plus syndrome

Anophthalmia plus syndrome is 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.

Also known as: Fryns microphthalmia syndrome, microphthalmia with facial clefting, Fryns anophthalmia syndrome, Leichtman Wood Rohn syndrome, anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder, anophthalmia-plus syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Anophthalmia plus syndrome itself.