Catalog

Autosomal recessive cutis laxa, type 3

No MMS code

Link to WHO Definition

Autosomal recessive cutis laxa, type 3 – http://id.who.int/icd/entity/1718974486

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.