Disorder of sex development-intellectual disability syndrome

A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.

Also known as: Verloes-Gillerot-Fryns syndrome, pseudohermaphroditism-intellectual disability syndrome, Male pseudohermaphroditism intellectual disability syndrome, Verloes type, Verloes Gillerot Fryns syndrome, Verloes syndrome, disorder of sex development intellectual disability, male pseudohermaphroditism/intellectual disability syndrome, Verloes type, male pseudohermaphroditism/mental retardation syndrome, Verloes type

5 clinical trials for this condition and its sub-types, 0 tagged with Disorder of sex development-intellectual disability syndrome itself.