genitopatellar syndrome

genitopatellar syndrome

A rare autosomal dominant (OMIM:606170), originally thought to be autosomal recessive, which is characterised by microcephaly, severe psychomotor retardation and coarse facial features, including broad nose and small or retracted chin; it is associated with congenital flexion contractures of the lower extremities, abnormal or absent patellae, agenesis of corpus callosum, and urogenital defects (e.g., multicystic kidneys, scrotal hypoplasia, cryptorchidism).
 
Molecular pathology
Defects in KAT6B, which encodes a histone acetyltransferase that up- or downregulates transcription (depending on the context), cause genitopatellar syndrome.
Mentioned in ?
References in periodicals archive ?
Dawson et al., "The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms," Human Mutation, vol.
Mutations of Kat6B have been identified in patients with Say-Barber-Biesecker syndrome and with genitopatellar syndrome [66-68].
Different degrees of skeletal anomalies present with the following entities: Genitopatellar syndrome, Patella aplasia-hypoplasia syndrome, Meier-Gorlin syndrome, and Rapadilino syndrome.