DESCRIPTION

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 hypothyroi-didsm. The two siblings of the index case were physic-ally normal. Our patient most probably had autosomal mode of inheritance. The genetic analysis of the patient showed mutation in TP63 gene (R280C muta-tion) causing split hand/foot malformation syndrom