Genitopatellar syndrome

[MIM 606 170]

(absent patellae-scrotal hypoplasia-renal abnormalities-facial dysmorphy-intellectual deficit)

Prevalence < 1/106.  Autosomal recessive or dominant transmission of a mutation of gene KAT6B on 10q22.2.

Association of:

-        absence or hypoplasia of the patellae

-        genital anomalies: hypoplasic scrotum and cryptorchidism in boys, hypoplasia of labia minora and anteposition of anus in girls

-        dysmorphic facial features: coarse face, broad nose, microcephaly

-        kidney abnormalities: polycystic kidneys or hydronephrosis

-        contractures of the lower limbs, club feet

-        intellectual deficit (agenesis of the corpus callosum, neuronal migration abnormalities)

Sometimes heart defect.

Poor prognosis.


Anesthetic implications: 

check renal function; echocardiography; management of a polyhandicapped child


References : 


Updated: October 2016