Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder.

A 17-year-old man, the third child of physically normal parents, was diagnosed with a case of cleft hand (lobster hand) in our outpatient department during a routine visit. He was born with deformed hands and feet in the form of syndactyly of thumb with the index finger in the upper limbs. He had a median cleft of the hands (figures 1–3). There was no facial dysmorphism in the patient. He had a history of congenital heart disease (ventricular septal defect with aortic regurgitation) and seronegative hypothyroididsm. The two siblings of the index case were physically normal. Our patient most probably had autosomal mode of inheritance. The genetic analysis of the patient showed mutation in TP63 gene (R280C mutation) causing split hand/foot malformation syndrome (SHFM) type 4.