| umls-concept:C0265233 | skos:definition | JABL: An association of cryptophthalmos with a wide range of abnormalities, consisting mostly of orofacial defects, laryngeal stenosis, syndactyly, decreased number of digits, renal dysplasia, and hypogenitalism. A small number of cases consist of only acrofacial and urogenital malformations without cryptophthalmos.,MSH: Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.,NCI: A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly. | lld:umls |
