Core features of BDV syndrome are delayed developmental skills, especially a delay in acquiring speech and motor skills, and a severe to profound obesity, already presenting in early childhood. Almost all patients showed a vigorous appetite. Additional important features are infantile muscle weakness (hypotonia), behavioral disorders and other endocrine diseases including non-functional male testes or female ovaries (hypogonadotropic hypogonadism), underactive thyroid (hypothyroidism) and high blood sugar levels (diabetes). BDV syndrome has overlapping clinical presentation with Prader-Willi syndrome, the most common cause of childhood-onset obesity with developmental delay.
CPE