LD28.2
Genetically-determined cutis laxa
Cutis laxa geneticamente determinada
CategoryIndex Terms
Genetically-determined cutis laxaAutosomal recessive cutis laxaAutosomal recessive cutis laxa, type 1Autosomal recessive cutis laxa with severe systemic involvementAutosomal recessive cutis laxa, pulmonary emphysema typeARCL-1 - [Autosomal recessive cutis laxa, type 1] (MIM 219100)Autosomal recessive cutis laxa, type 2AAutosomal recessive cutis laxa, Debré typeARCL-2A - [Autosomal recessive cutis laxa, type 2A] (MIM 219200)Autosomal recessive cutis laxa, type 2BCutis laxa with bone dystrophyCutis laxa with joint laxity and developmental delayARCL-2B - [Autosomal recessive cutis laxa, type 2B] (MIM 612940)Autosomal recessive cutis laxa, type 3Cutis laxa - corneal clouding - intellectual deficitProgeroid syndrome, De Barsy typeDe Barsy syndromeARCL-3 - [Autosomal recessive cutis laxa, type 3] (MIM 219150)Autosomal dominant cutis laxaADCL - [Autosomal dominant cutis laxa] (MIM 123700)Syndromic cutis laxaCutis laxa with severe pulmonary, gastrointestinal and urinary anomaliesUrban-Rifkin-Davis syndromeURDS - [Urban-Rifkin-Davis syndrome] (MIM 613177)X-linked cutis laxaEhlers-Danlos syndrome type IXOccipital horn syndromeOHS - [occipital horn syndrome]Cutis laxa - Marfanoid syndromeMacrocephaly – alopecia – cutis laxa – scoliosis syndromeMACS syndrome (MIM 613075)MACS - [Macrocephaly – alopecia – cutis laxa – scoliosis syndrome]SCARF syndromeSkeletal abnormalities – Cutis laxa – craniostenosis – Ambiguous genitalia – psychomotor Retardation and Facial abnormalities