Cardiospondylocarpofacial syndrome (CSCF), also known as Forney syndrome, is a rare genetic disorder (<1/1,000,000) (Orphanet 2024) characterized by a distinct constellation of symptoms (Table 1 and Fig. 1) (Online Mendelian Inheritance in Man O 2022). These include growth retardation, dysmorphic facial features, cardiac septal defects with valve dysplasia, conductive deafness accompanied by inner ear malformations, short stature, and skeletal anomalies, such as brachydactyly and bony fusion affecting the cervical vertebrae, ossicles, carpal, and tarsal bones (Le Goff et al. 2016). The inheritance pattern of CSCF appears to follow an autosomal dominant pattern with incomplete penetrance (Forney et al. 1966). CSCF syndrome was first described in 1966 by Forney et al., who reported a mother and her two daughters sharing unique clinical features that could not be explained by any other known syndrome. The daughters presented with growth retardation, followed by partial deafness and heart murmurs suggesting cardiac anomalies (Forney et al. 1966). Subsequent reports in the 2000s further characterized CSCF and contributed to the understanding of this rare disorder (Le Goff et al. 2016; Sousa et al. 2010).