De Barsy syndrome

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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De Barsy syndrome?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.