Split hand-foot malformation 1 with sensorineural hearing loss
Split hand-foot malformation 1 with sensorineural hearing loss
Definition
Split 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.
Also known as SHFM1D, split hand-foot malformation 1 with sensorineural hearing loss, split-hand/foot malformation 1 with sensorineural hearing loss — per MONDO