You are using an outdated browser. Please upgrade your browser to improve your experience.

mullerian derivatives-lymphangiectasia-polydactyly syndrome

Disease Summary
Associated Targets ()

Mondo Description Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised 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.
Mondo Term and Equivalent IDs
MONDO:0009333:  mullerian derivatives-lymphangiectasia-polydactyly syndrome
GARD:0005430: 
MESH:C536478: 
Orphanet:1655: 
UMLS:C1856159: