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de Barsy syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
Mondo Term and Equivalent IDs
MONDO:0017569:  de Barsy syndrome
GARD:0000049: 
MESH:C535990: 
Orphanet:2962: 
SCTID:238826008: