syndromic disease anophthalmia plus syndrome https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome https://www.malacards.org/card/fryns_microphthalmia_syndrome MONDO:0010930 anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder Leichtman Wood Rohn syndrome UMLS:C1833339 Orphanet:1104 MESH:C537767 Fryns anophthalmia syndrome Fryns microphthalmia 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. OMIM:600776 SCTID:720496006 microphthalmia with facial clefting GARD:0000719 MEDGEN:322166 multiple congenital anomalies/dysmorphic syndrome without intellectual disability obsolete_anophthalmia plus syndrome