Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome (also known as Ohdo syndrome or Ohdo blepharophimosis syndrome) is an extremely rare congenital disorder characterized by a distinctive combination of facial, skeletal, and growth abnormalities. The syndrome was first described by Ohdo and colleagues in 1986. Key clinical features include blepharophimosis (narrowing of the eye opening), ptosis (drooping of the upper eyelids), esotropia (inward turning of the eyes), syndactyly (webbing or fusion of fingers and/or toes), and short stature. Additional features may include intellectual disability of variable severity, congenital heart defects, and dental anomalies. The facial features are often recognizable and may include a flat nasal bridge and a broad face. The syndrome affects multiple body systems, including the craniofacial structures, the musculoskeletal system, the eyes, and potentially the cardiovascular and central nervous systems. Growth deficiency is typically present from birth and persists throughout life. The degree of intellectual disability can range from mild to severe. Treatment is symptomatic and supportive. Surgical correction may be considered for blepharophimosis, ptosis, and syndactyly to improve function and appearance. Esotropia may be managed with corrective lenses, patching, or surgical intervention. Cardiac defects, if present, may require medical or surgical management. Early developmental intervention and special education services are recommended for individuals with intellectual disability. Regular follow-up with a multidisciplinary team including ophthalmology, orthopedics, cardiology, and developmental specialists is important for optimal management.

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