TMCO1 Defect Syndrome includes multisystem clinical characteristics including developmental delays and intellectual disability. Prenatal features include decrease fetal movement and polyhydramnios followed by neonatal hypotonia and failure to thrive. Distinctive craniofacial dysmorphism includes brachycephaly, highly-arched bushy eyebrows, synophrys and hypertelorism, low set ears, and microdontism of primary teeth with gingival hyperplasia. Individuals are also at risk of developing skeletal anomalies (short neck, fusion of spine, Sprengel deformity, missing or fused ribs), abnormal brain malformations (craniosynostosis, enlarged ventricles, corpus callosum dysgenesis), as well as cardiac and genitourinary anomalies. Sluggish speech with loud, hoarse voice in verbal patients was also observed with notably unstable gait. Individuals with this syndrome can also expect to have behavioral problems followed by depression and anxiety later in life.
TMCO1