[MIM 614 326]

Very rare. Autosomal dominant transmission of a mutation (hemizygous deletion) of the MIR17HG gene (13q31.3). 

The phenotype is similar to  Feingold 1 syndrome (see MODED) but there is no digestive atresia nor palpebral anomalies.

Association of:

-        anomalies of the hands: hypoplasia or agenesis of the medial phalanges, syndactylies, mostly of the 2-3 and 4-5 toes (96 %)

-        microcephaly, short palpebral slits, short stature

-        sometimes, vertebral anomalies

-        cardiac (18 %) or renal (15 %) anomalies

Anesthetic implications: 

echocardiography. Risk of difficult intubation.

References:

-        Ganjavi H, Siu VM, Speevak M, MacDonald PA.
A fourth case of  Feingold syndrome type 2 : psychiatric presentation and management.
BMJ Case Rep 2014 ;  doi 10.1136/bcr-2014-207501

Updated: July 2019