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Background  Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplication involving 17p13.3 region has been described as the most common cause of split hand/foot malformation with long bone deficiency (SHFLD) in several different Caucasian and Asian populations. Gene dosage effect of the extra copies of  BHLHA9  gene at this locus has been implicated in the pathogenesis of SHFLD.    Case presentation  The proband was a female child born to non-consanguineous parents. She was referred for genetic evaluation of bilateral asymmetric ectrodactyly involving both hands and right foot along with right tibial hemimelia. The right foot had fixed clubfoot deformity with only 2 toes. The mother had bilateral ectrodactyly involving both hands, but the rest of the upper limbs and both lower limbs were normal. Neither of them had any other congenital malformations or neurodevelopmental abnormalities. Genetic testing for rearrangement of  BHLHA9  gene by quantitative polymerase chain reaction confirmed the duplication of the  BHLHA9  gene in both the proband and the mother.    Conclusions  We report the first Sri Lankan family with genetic diagnosis of  BHLHA9  duplication causing SHFLD. This report along with the previously reported cases corroborate the possible etiopathogenic role of  BHLHA9  gene dosage imbalances in SHFM and SHFLD across different populations.

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature