Abstract Background Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is a rare neurodevelopmental disease caused by BPTF gene variants. To date, there are only 36 cases reported in the literature, and patients mainly presented with a developmental delay, language delay, and microcephaly. About 35% of the patients had short stature, but there had no reports published on the treatment. Methods The exome sequencing was performed in two probands. Sanger sequencing was used to confirm the identified variants both in probands and their parents. Results As for the Chinese population, we report two novel variants in BPTF gene (NM_004459.6: c.1133G>A, c.5941delC) causing NEDDFL from two unrelated families. Both children had short stature and responded to recombinant human growth hormone (rhGH) treatment – the first report of this therapy in NEDDFL patients. Conclusion Our findings broaden the genotypic spectrum of BPTF variants. The salutary effect of rhGH in the NEDDFL is documented.
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