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De Barsy syndrome
Originally described as form of cutis laxa
Genetics:
- autosomal recessive
- mutations of either PYCR1 or ALDH18A1
Clinical manifestations:
- prematurely-aged appearance
- cutis laxa (skin laxity)
- developmental delay
- corneal opacity
- mental retardation
- athetosis
- skeletal anomalies
- adducted thumb
- congenital hip dislocation
- brachycephaly
General
progeroid syndrome
cutis laxa; elastolysis; loose skin; pachydermatocele
References
- De Barsy syndrome
Genetic and Rare Diseases Information Center (GARD)
https://rarediseases.info.nih.gov/diseases/49/de-barsy-syndrome