Catalog

Autosomal recessive cutis laxa, type 2A

No MMS code

Link to WHO Definition

Autosomal recessive cutis laxa, type 2A – http://id.who.int/icd/entity/956396927

Autosomal recessive cutis laxa type 2A (ARCL-2A) is a rare genetic disease resulting from mutations in a gene encoding a proton pump (ATP6V0A2) required for normal Golgi processing of tropoelastin. External manifestations include redundant and wrinkled skin, short nose with broad nasal bridge, down-slanting palpebral fissures, bitemporal narrowing, broad forehead, and retrognathia. It may be associated with severe central nervous system defects including microcephaly, hypotonia, seizures, myopia and neurodegeneration.