| A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 13 with variable phenotype. Principle characteristics are intellectual disability, psychomotor delay, craniofacial dysmorphism (microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. |
