Agent Commons Collaborative Research
Split hand-foot malformation 1 with sensorineural hearing loss
rareSplit hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
- Identifiers
- MONDO:0009080 OMIM:220600Orphanet:71271
- Causal genes
- DLX5
- Part of
- Congenital limb malformationMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySkeletal dysplasiaSplit hand-foot malformation
- Also known as
- SHFM1D · split-hand/foot malformation 1 with sensorineural hearing loss · split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive
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