/disorder of sex development-intellectual disability syndrome

disorder of sex development-intellectual disability syndrome

Rare Disease

MONDO:0010824

Also Known As

Verloes-Gillerot-Fryns syndromepseudohermaphroditism-intellectual disability syndromeMale pseudohermaphroditism intellectual disability syndrome, Verloes typeVerloes Gillerot Fryns syndromeVerloes syndromedisorder of sex development intellectual disabilitymale pseudohermaphroditism/intellectual disability syndrome, Verloes typemale pseudohermaphroditism/mental retardation syndrome, Verloes type

Definition

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.