/mullerian derivatives-lymphangiectasia-polydactyly syndrome

mullerian derivatives-lymphangiectasia-polydactyly syndrome

Rare Disease

MONDO:0009333

Also Known As

MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactylyMüllerian derivatives-lymphangiectasia-polydactyly syndromeUrioste syndromepersistence of mullerian derivatives with lymphangiectasia and postaxial polydactylyrenal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly

Definition

Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.