De Barsy syndrome

Orpha code: 2962OMIM code: 614438

Definition

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.

Disease data
Classification

Disease

Synonyms
Cutis laxa-corneal clouding-intellectual disability syndrome
Skóra wiotka - zamglenie rogówki - niepełnosprawność intelektualna
Zespół progerii typu De Barsy
Progeroid syndrome, De Barsy type
ORPHA code
2962
OMIM code
614438
ICD10 code
Q87.8
ICD11 code
LD28.2

No additional description.

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