" /> Autosomal recessive cutis laxa, type 3 - CISMeF





Preferred Label : Autosomal recessive cutis laxa, type 3;

ICD-11 definition : Autosomal recessive cutis laxa, type 3 (De Barsy syndrome) is a rare syndrome characterised by distinctive facial features, cutis laxa and mental retardation. Other distinguishing features include bilateral corneal opacification, progeroid appearance, reduced subcutaneous fat, and athetoid movements early in life. The genetic cause remains poorly defined though there is some evidence that mutations both of ATP6V0A2 and of PYCR1 may be associated with this phenotype.;

ICD-11 synonym : Progeroid syndrome, De Barsy type; ARCL-3 - [Autosomal recessive cutis laxa, type 3] (MIM 219150); Cutis laxa - corneal clouding - intellectual deficit; De Barsy syndrome; ARCL-3 - [Autosomal recessive cutis laxa, type 3];

ICD-11 acronym : ARCL-3;

ICD-11 inclusion : De Barsy syndrome;

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Autosomal recessive cutis laxa, type 3 (De Barsy syndrome) is a rare syndrome characterised by distinctive facial features, cutis laxa and mental retardation. Other distinguishing features include bilateral corneal opacification, progeroid appearance, reduced subcutaneous fat, and athetoid movements early in life. The genetic cause remains poorly defined though there is some evidence that mutations both of ATP6V0A2 and of PYCR1 may be associated with this phenotype.

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26/07/2025


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