Blepharophimosis-intellectual disability syndrome, Ohdo type

Blepharophimosis-intellectual disability syndrome, Ohdo type (also known as Ohdo syndrome or Ohdo blepharophimosis syndrome) is a rare genetic disorder first described by Ohdo and colleagues in 1986. It is characterized by a distinctive combination of facial features, intellectual disability, and congenital anomalies. The hallmark facial feature is blepharophimosis, a narrowing of the eye opening due to small palpebral fissures, often accompanied by ptosis (drooping eyelids). Affected individuals typically present with intellectual disability of variable severity, which may range from mild to severe. Additional features can include a mask-like, expressionless face, a broad and flat nasal bridge, small mouth, and dental anomalies. Congenital heart defects have been reported in some patients, and hearing loss may also occur. The condition affects multiple body systems, including the craniofacial structures, central nervous system, cardiovascular system, and musculoskeletal system. Hypotonia (reduced muscle tone) and feeding difficulties may be present in infancy. Growth may be affected, with some individuals showing short stature. Speech and motor development are typically delayed. The Ohdo type should be distinguished from other forms of blepharophimosis-intellectual disability syndromes, including the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant, which is caused by mutations in the KAT6B gene and has overlapping but distinct features. There is currently no cure or disease-specific treatment for Ohdo-type blepharophimosis-intellectual disability syndrome. Management is supportive and multidisciplinary, focusing on the individual's specific symptoms. This may include surgical correction of ptosis or blepharophimosis to improve vision and appearance, cardiac evaluation and management if heart defects are present, hearing aids for hearing impairment, and early intervention programs including speech therapy, physical therapy, and special education to optimize developmental outcomes. Regular follow-up with a clinical geneticist and relevant specialists is recommended.

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