Short-Rib Thoracic Dysplasia (SRTD)

Short-rib thoracic dysplasia syndromes (SRTDs) with or without polydactyly are regarded as a range of skeletal ciliopathies with an autosomal recessive (AR) inheritance (Fang et al. 2023; OMIM entry % 208500, https://omim.org ). SRTD is currently categorized as short-rib thoracic dysplasia with or without polydactyly types 1–17 (Fang et al. 2023) and may clinically encompass the asphyxiating thoracic dystrophy or Jeune syndrome, Ellis-van Creveld syndrome, short rib-polydactyly syndrome, and Mainzer-Saldino syndrome (OMIM entry % 208500, https://omim.org ). The exact incidence of short-rib polydactyly syndromes remains poorly understood, though its frequency was estimated to fall in a range between 1:100,000 and 1:130,000 live births (Short Rib Thoracic Dysplasia with or Without Polydactyly 2019). The phenomenon may be accompanied by a fatal neonatal period following respiratory insufficiency due to a severely restricted thoracic cage or being manifested shortly after birth. It somehow may be compatible with the patient’s life (OMIM entry % 208500, https://omim.org ).