Cerebro-facio-thoracic dysplasia (CFTD) is a very uncommon autosomal recessive disorder characterized by unique facial traits, costovertebral and central nervous system (CNS) abnormalities, and developmental intellectual/delay disability (ID/DD) (Alanay et al. 2014). Pascual-Castrovijo et al. initially described the syndrome through observational research in consanguineous Old Order Amish families in 1975 (Abdelrazek et al. 2023). Later, Xin et al. reported that CFTD syndrome was an inheritable condition associated with the mutation in the TMCO1 gene (coiled-coil domains and transmembrane protein 1) (Xin et al. 2010). TMCO1 deficiency syndrome is now believed to be a component of the spectrum of CFTD, according to a thorough publication and clinical database search from PubMed and OMIM. There is wide variation in the age at diagnosis for this disease. In most cases, it is diagnosed in infancy with symptoms such as increased birth weight, insufficient latching, and persistent hypotonia, or in childhood with delayed intellectual and physical development. However, in some cases, diagnosis is delayed until adolescence and young adulthood due to the less severe symptoms (Smigiel et al. 2012; Alanay et al. 2014; Pehlivan et al. 2014). Given the diversity of symptoms and ages of onset, the importance of genetic and clinical evaluations is emphasized. Numerous ethnic groups, such as the Middle Eastern population, Turkish homes, and the Old Order Amish community in the United States, have been identified as having the syndrome (Alanay et al. 2014; Pehlivan et al. 2014). To date, approximately 30 cases of CFTD have been molecularly confirmed (Abdelrazek et al. 2023), with a large portion of patients accounting for consanguineous families (Michael Yates et al. 2019).