Catalog

Buttiens-Fryns syndrome

No MMS code

Link to WHO Definition

Buttiens-Fryns syndrome – http://id.who.int/icd/entity/223906443

Buttiens-Fryns syndrome (distal limb deficiencies-micrognathia syndrome) is the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.

Parents

Distal duplications of the long arm of chromosome 10
Syndromic conditions with disorders of intellectual development as a relevant clinical feature