/split hand-foot malformation 3

split hand-foot malformation 3

Rare Disease

MONDO:0009525

Also Known As

10q24 microduplication syndromeButtiens-Fryns syndromeSHFM3chromosome 10q24 duplication syndromedistal limb deficiencies with micrognathiasplit hand-foot malformation 3split hand-foot malformation type 3split-hand/foot malformation 3, gene duplication syndromesplit-hand/foot malformation type 3Buttiens Fryns syndromeShsf3chromosome 10Q24 Duplication syndromedistal limb deficiencies-micrognathia syndromelimb deficiencies distal with micrognathialimb deficiencies, distal, with micrognathiasplit-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.