Trigonocephaly-short stature-developmental delay syndrome

Trigonocephaly-short stature-developmental delay syndrome (also known as Say-Meyer syndrome) is an extremely rare genetic condition characterized by a distinctive combination of craniofacial, skeletal, and neurodevelopmental abnormalities. The hallmark feature is trigonocephaly, a skull malformation caused by premature fusion (craniosynostosis) of the metopic suture, resulting in a triangular-shaped forehead. Affected individuals also present with short stature and developmental delay, including intellectual disability of variable severity. The syndrome affects multiple body systems. Craniofacial features may include a prominent or ridged metopic suture, hypotelorism (closely spaced eyes), and other facial dysmorphisms. Skeletal abnormalities beyond short stature can be present. Neurological involvement manifests as global developmental delay, with delays in motor and cognitive milestones. Additional features reported in some cases include microcephaly and other minor anomalies. This condition has been described in only a very small number of patients in the medical literature, making it one of the rarest recognized syndromes. Due to its extreme rarity, there is no specific treatment available. Management is supportive and symptomatic, potentially including surgical correction of craniosynostosis if clinically indicated, growth monitoring, and developmental support services such as early intervention programs, speech therapy, and special education. A multidisciplinary approach involving craniofacial surgeons, pediatric endocrinologists, neurologists, and developmental specialists is recommended.

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