Ring chromosome 11
Ring chromosome 11
Definition
Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.
Also known as r(11) syndrome, RC11, Ring chromosome type 11 — per MONDO