Split hand-foot malformation 3
Split hand-foot malformation 3
Definition
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.
Also known as 10q24 microduplication syndrome, Buttiens-Fryns syndrome, chromosome 10q24 duplication syndrome, SHFM3, split hand-foot malformation 3, split hand-foot malformation type 3, split-hand/foot malformation 3, gene duplication syndrome, split-hand/foot malformation type 3 — per MONDO