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GENATLAS PHENOTYPE
last update : 03-01-2019
Symbol BPCVAO
Location 1q23.3
Name blepharophimosis, corneal vascularization, acro-osteolysis
Other name(s) Warburg-Cinotti syndrome
Corresponding gene DDR2
Other symbol(s) WCS
Main clinical features
  • blepharophimosis, progressive corneal vascularization, retinal dystrophy, conductive hearing loss, acro-osteolysis, multiple skin problems, including thin skin, chronic ulcers, and a tendency to form keloid-like lesions
  • normal or tall stature and normal limb lengths, indicating normal developmental bone growth
  • finger flexion contractures, preceded by painless, non-erythematous swelling of the involved joints, normal intelligence
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    eye
    osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function  
    Remark(s)