MIM 147 950, 244 200, 308 700, 610 628, 612 370, 612 702, 614 837, 614 838, 614 840, 614 858, 614 880, 614 897, 615 266, 615 267, 615 269, 615 270, 615 271]*

(olfacto-genital dysplasia, Kallmann-Morsier syndrome, congenital hypogonadotropic hypogonadism with anosmia)

Not to be confused with De Morsier syndrome !

Rare: 1-10/100,000. Autosomal dominant, recessive, or X-linked transmission or de novo mutation, according to the type of mutation involved. Much more common among boys.

Association of:

-        hypogonadism due to gonadotropin-releasing hormone deficiency: micropenis, absence of spontaneous puberty

-        anosmia or hyposmia due to hypoplasia or aplasia of the olfactory bulbs

Occasionally: agenesis of one kidney, cleft lip or palate, dental agenesis, deafness, contralateral imitation synkinesis [mirror of upper limb movements]

Occasional heart disease: complex right ventricle anomaly like double outlet, RV dilated cardiomyopathy, or malformation of the aortic arch.

Identified genes:

-        KAL1 on Xp22.3

-        FGFR1 on 8p11.23

-        FGF8

-        PROKR2

-        PROK2

-        CHD7

Anesthetic implications:

echocardiography, check renal function

References : 

•    Salomon R. 
  Syndromes avec anomalies rénales in 
  Progrès en Pédiatrie : syndromes dysmorphiques par Lacombe D et Philip N, Doin 2013, p 139-50

Updated: February 2019