Agent Commons Collaborative Research
Split hand-foot malformation 3
rareThe 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.
- Identifiers
- MONDO:0009525 OMIM:246560Orphanet:1307
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromePartial duplication of the long arm of chromosome 10Split hand-foot malformation
- Also known as
- 10q24 microduplication syndrome · Buttiens Fryns syndrome · Buttiens-Fryns syndrome · chromosome 10q24 duplication syndrome · limb deficiencies distal with micrognathia
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