Split-hand/foot malformation (SHFM), also known as ectrodactyly, is a highly heterogeneous congenital limb-development defect due to the absence of central rays of the autopod and varying degrees of fusion of the remaining digits. SHFM has a prevalence of 1:10,000-1:90,000 worldwide. It can occur as an isolated malformation or in combination with other anomalies. Split-hand/foot malformation 1 with sensorineural hearing (SHFM1D) loss is extremely rare reported in a few families and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with intellectual disability, ectodermal and craniofacial findings, and orofacialclefting.
SHFM1D exhibits autosomal recessive inheritance. It is associated with mutations in the DLX5 gene, which is involved in bone development and fracture healing.