/split hand-foot malformation 1 with sensorineural hearing loss

split hand-foot malformation 1 with sensorineural hearing loss

Rare Disease

MONDO:0009080

Also Known As

SHFM1Dcongenital deafness with split hands and feetsplit hand-foot malformation 1 with sensorineural hearing losssplit-hand/foot malformation 1 with sensorineural hearing lossdeafness, congenital, with split hands and feetsplit hand-split foot-deafness syndromesplit-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive

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.