• Dario Cocciadiferro, Emanuele Agolini, Maria Cristina Digilio, Lorenzo Sinibaldi, Marco Castori, Evelina Silvestri, Andrea Dotta, Bruno Dallapiccola, and Antonio Novelli.
• Laboratory of Medical Genetics.
• Medicine (Baltimore). 2020 Feb 1; 99 (8): e19169.

IntroductionKIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities.Patient ConcernsPatients 1 and 2 were two Roma Gypsy siblings presenting thoracic dysplasia and a combination of oral cavity anomalies.DiagnosisA custom NGS gene panel, including genes associated to skeletal ciliopathies, identified the homozygous KIAA0586 splicing variant c.1815G>A (p.Gln605Gln) in both siblings, confirming the clinical diagnosis of short-rib-polydactyly.InterventionPatients were transferred to neonatal intensive care unit and received life-support treatment.OutcomesPatients 1 and 2 died after few hours and 1 month of birth, respectively, because of respiratory failure related with the disease.ConclusionWe report two patients affected by short-rib polydactyly syndrome and overlapping phenotype with oral-facial-digital syndrome associated with the c.1815G>A variant in KIAA0586, suggesting a quite peculiar genotype-phenotype correlation.

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