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.
A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.
Akalin I, Senses DA, Ilgin-Ruhi H, Misirlioglu E, Yalciner M, Cetinkaya E, Fryns JP, Tukun A. Genet Couns. 2005;16(2):145-8.
A novel Fryns "anophthalmla-plus" syndrome associated with primary hypothyroidism: Here, we report a newborn male with "anophthalmia-plus" syndrome and primary congenital hypothyroidism.
