[MIM 210 745]

Very rare, described in Yemenite Jews populations. Recessive autosomal transmission.

Association of:

-        blepharophimosis: palpebral fissure that are too short in length

-        blepharoptosis with permanent contraction of the frontal muscle (appearance of arched eyebrows) to compensate for the ocular ptosis

-        telecanthus

-        prognathism due to maxillary hypoplasia

-        camptodactyly with syndactyly

-        and frequent short stature.

Anesthetic implications: 

possible difficult intubation due to maxillary hypoplasia

References : 

-        Meel R, Ayyadurai N, Das D.
Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis.
BMJ Case Reports 2020 ; 13 : e 236373 doi :10.1136/bcr-2020-236373

Updated: July 2020