Microcephaly lymphoedema chorioretinal dysplasia

Microcephaly lymphoedema chorioretinal dysplasia, also known as lymphedema microcephaly chorioretinopathy syndrome, is a rare genetic condition defined by three features: a small head, swelling of the feet from lymphoedema, and changes in the retina called chorioretinal dysplasia. It was described as a distinct entity in 1992 by Feingold and Bartoshesky, who reported two unrelated children, and further cases were reported through 2001. Some children show only two of the features, either microcephaly with lymphoedema or microcephaly with chorioretinal dysplasia, with or without intellectual disability. Reported facial features include upslanting palpebral fissures, a broad nose with a rounded tip, a long philtrum with a thin upper lip, a pointed chin and prominent ears. The inheritance pattern varies between reports and has been described as autosomal dominant, autosomal recessive or X-linked.