Split hand-foot malformation 3

MONDO:0009525

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, SHFM3, chromosome 10q24 duplication syndrome, 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

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