Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Synonyms: Urioste syndrome
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus fallopian tubes and atretic vagina) and other genital anomalies (cryptorchidism micropenis) in male newborns intestinal and pulmonary lymphangiectasia protein-losing enteropathy hepatomegaly and renal anomalies. Postaxial polydactyly facial dysmorphism (including broad nasal bridge bulbous nasal tip long and prominent upper lip with smooth philtrum hypertrophic alveolar ridges and mild retrognathia among other features) and short limbs have also been described. The syndrome is fatal in infancy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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