(Warburg Micro syndrome, WARBM1)

Very rare. Autosomal recessive transmission. Probably caused by mutations in the RAB3GAP gene (on 2q21.3) that codes for a protein involved in exocytosis of neurotransmitters and hormones.

Association of:

-        ocular abnormalities: congenital cataract, microcornea, microphthalmia, atonic pupil

-        developmental delay: microcephaly, agenesis of the Corpus Callosum, hypotonia, severe mental retardation, sometimes  seizures resistant to treatment.

-        genital hypoplasia: micropenis, delayed puberty, hypoplasia or absence of the labia minora

There is often a facial dysmorphism: nose with anteverted nostrils and a wid base, short palpebral fissures, large or low implanted ears, micrognathia, arched palate. Sometimes, renal abnormalities.

There is often postnatal growth retardation. In general, the eye anomalies dominate the clinical picture in the neonatal period.

Anesthetic implications:

mental retardation, epilepsy. Monitor renal function. Risk of difficult intubation if micrognathia

References : 

-         Derbent M, Agras PI. 
Micro syndrome. 
Orphanet Encyclopaedia, Jan 2006.

Updated: January 2019