De Barsy syndrome
Synonyms: Cutis laxa-corneal clouding-intellectual disability syndrome | Progeroid syndrome, De Barsy type
De Barsy syndrome (DBS) is 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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De Barsy syndrome?
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For a list of clinical trials in this disease area, please click here.