Search
cutis laxa autosomal recessive type 3A; mental retardation-joint hypermobility-skin laxity
Genetics:
- associated with defects in ALDH18A1
Clinical manifestations:
- microcephaly
- progressive neurologic dysfunction
- mental retardation
- progeroid appearance
- joint hypermobility,
- skin laxity & hyperelasticity
- cataracts
Laboratory:
- some patients manifest metabolic disturbances
- plasma ammonia: hyperammonemia
- serum ornithine hypoornithinemia
- serum citrulline: hypocitrullinemia
- serum arginine: hypoargininemia
- serum proline: hypoprolinemia
General
genetic syndrome (multisystem disorder)
cutis laxa; elastolysis; loose skin; pachydermatocele
Database Correlations
OMIM 219150
References
OMIM :accession 219150