DYNC2H1 encodes dynein cytoplasmic 2 heavy chain 1, a minus-end-directed microtubule motor protein essential for intraflagellar retrograde transport and cilia biogenesis 1. The protein functions as a motor component of the cytoplasmic dynein complex, facilitating transport of proteins along ciliary axonemes and potentially regulating intracellular trafficking between the endoplasmic reticulum and Golgi apparatus. DYNC2H1 mutations cause a spectrum of skeletal ciliopathies characterized by profound skeletal abnormalities. Short-rib thoracic dysplasia (SRTD) with or without polydactyly, formerly known as asphyxiating thoracic dystrophy (Jeune syndrome), represents the primary disease association, with approximately half of SRPS cases linked to DYNC2H1 variants 2. Clinical presentations range from perinatal lethal forms to milder phenotypes, with variable severity correlating with antenatal presentation timing and femur shortening rather than genotype 3. Beyond skeletal ciliopathies, DYNC2H1 mutations have been identified in Ellis-van Creveld syndrome and lingual hamartoma, suggesting broader developmental roles 14. Compound heterozygous variants and digenic inheritance involving DYNC2H1 and NEK1 contribute to disease pathogenesis 5. Early prenatal diagnosis through exome sequencing enables prognostic assessment and family genetic counseling for affected pregnancies.