Skeletal Survey of a Filipino Teenage Female with Ohdo syndrome: Case Report

Ohdo Syndrome Case Report Ohdo syndrome is a rare condition characterized by: Genital abnormalities in males Missing or underdeveloped patellae Intellectual disability Distinctive facial features Abnormalities affecting other parts of the body It is so rare, it cannot be found in any standard medical and specialty books. The SBBYS variant of Ohdo syndrome is estimated to occur in less than 1 per million people. At least 19 cases have been reported in the medical literature. There are two known variants: Say-Barber-Biesecker-Young-Simpson syndrome (SBBYS) Maat-Kievit-Brunner type (reported only in males) Case Summary We have a case of a 16-year-old female who presented with severe intellectual disability. Physical examination revealed some features associated with this condition. Plain radiographs showed multiple skeletal abnormalities consistent with the syndrome. Genetic Basis Ohdo syndrome is caused by mutations in the KAT6B gene. Currently, there is no treatment for this disorder. However, proper diagnosis and recognition of the disease should be done at the earliest possible time to provide adequate support and interventions for the persons affected by this congenital condition.