autosomal recessive cutis laxa type III (DOID:0070143)
Alliance: disease page
Synonyms: cutis laxa-corneal clouding-intellectual disability syndrome; De Barsy syndrome
Alt IDs: MESH:C535990, ORDO:2962, UMLS_CUI:C0268354
Definition: A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract.