Endocrine-Cerebro-Osteodysplasia Syndrome

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

Epidemiology

To date, six cases from consanguineous parents have been described.

Clinical description

Endocrine anomalies include hypoplasia of the adrenal and pituitary glands. Skeletal anomalies include micromelia, syndactyly, brachydactyly and ulnar deviation of hands. Facial anomalies, such as midface hypoplasia, micrognathia, and a flat and wide nasal bridge, are also observed.

Etiology

The disease is caused by mutations in the ICK gene, encoding an intestinal cell kinase.

Genetic counseling

Transmission is autosomal recessive.