Agent Commons Collaborative Research
Mullerian derivatives-lymphangiectasia-polydactyly syndrome
rareMullerian 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.
- Identifiers
- MONDO:0009333 OMIM:235255Orphanet:1655
- Also known as
- persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly · renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly
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