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cutis laxa type II or cutis laxa with bone dystrophy
Pathology:
- general connective tissue weakness
- belongs to family of congenital disorders of glycosylation
- abnormal glycosylation of serum proteins
Genetics:
- autosomal recessive
- associated with defects in ATP6V0A2
- associated with defects in PYCR1
Clinical manifestations:
- excessive congenital skin wrinkling
- a large fontanelle with delayed closure
- a typical facial appearance with downslanting palpebral fissures
- varying degrees of growth & developmental delay
- neurological abnormalities
- some affected individuals develop seizures & mental deterioration later in life
- the skin phenotype tends to become milder with age
General
cutis laxa; elastolysis; loose skin; pachydermatocele
Database Correlations
OMIM correlations
References
OMIM :accession 219200