Endocrine-cerebro-osteodysplasia syndrome

Endocrine-cerebro-osteodysplasia (ECO) syndrome is an extremely rare, lethal autosomal recessive disorder caused by biallelic mutations in the ICK gene (intestinal cell kinase), which plays a critical role in ciliary function and signaling pathways. The syndrome was first described in a consanguineous family and is characterized by a triad of endocrine, cerebral, and skeletal abnormalities. Because ICK is involved in cilia-mediated signaling, ECO syndrome is classified among the ciliopathies. Key clinical features include multiple endocrine deficiencies (such as adrenal hypoplasia and hypothyroidism), severe brain malformations (including holoprosencephaly or other cerebral structural anomalies), and skeletal dysplasia with short limbs and other osteodysplastic changes. Additional features may include facial dysmorphism, lung hypoplasia, and ambiguous genitalia or other urogenital anomalies. The condition presents at birth or prenatally and is typically lethal in the neonatal period. There is currently no specific treatment or cure for ECO syndrome. Management is supportive and palliative, addressing the individual organ system manifestations as they arise. Genetic counseling is recommended for affected families. Due to the extreme rarity of this condition, knowledge is based on very few reported cases, and further research is needed to fully characterize the clinical spectrum.

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