mullerian derivatives-lymphangiectasia-polydactyly syndrome
Findings
No curated finding names mullerian derivatives-lymphangiectasia-polydactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009333), read 2026-09-29. CC BY 4.0.
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal distentionHPOHP:0003270
- Very frequent (80% to 99% of cases)
- Abnormal fallopian tube morphologyHPOHP:0011027
- Very frequent (80% to 99% of cases)
- Abnormal renal morphologyHPOHP:0012210
- Very frequent (80% to 99% of cases)
- Abnormality of the uterusHPOHP:0000130
- Very frequent (80% to 99% of cases)
- Abnormally large globeHPOHP:0001090
- Very frequent (80% to 99% of cases)
- Alveolar ridge overgrowthHPOHP:0009085
- Very frequent (80% to 99% of cases)
Show the remaining 29
- Hepatic failureHPOHP:0001399
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- HydronephrosisHPOHP:0000126
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of