Ohdo Syndrome Or Say-Barber-Biesecker-Young-Simpson (SBBYS) variant ; Definition, Causes,Treatment скачать в хорошем качестве

Ohdo Syndrome Or Say-Barber-Biesecker-Young-Simpson (SBBYS) variant ; Definition, Causes,Treatment

Ohdo Syndrome, also known as Say-Barber-Biesecker-Young-Simpson (SBBYS) variant, is a rare genetic disorder characterized by a variety of symptoms, including: Distinctive Facial Features: Mask-like face, prominent cheeks, broad nasal bridge, droopy eyelids (ptosis), and small eye openings (blepharophimosis). Skeletal Abnormalities: Missing or underdeveloped kneecaps (patellae), joint stiffness, long thumbs and big toes. Intellectual Disability: Severe developmental delays and intellectual disability. Other Features: Weak muscle tone (hypotonia), feeding difficulties, respiratory problems, heart defects, and dental problems. The condition is caused by mutations in the KAT6B gene, which plays a role in regulating gene activity during early development #