mullerian derivatives-lymphangiectasia-polydactyly syndrome

MeSH: C536478ORPHA: 1655

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with mullerian derivatives-lymphangiectasia-polydactyly syndrome, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaCryptorchidismHydronephrosisAbnormality of the uterusVaginal atresiaHigh palateThin upper lip vermilionHypertelorismSmooth philtrumMicrognathiaLow-set earsBroad nasal tipShort neckDownslanted palpebral fissuresNarrow chestHypertrichosisAbnormally large globePostaxial hand polydactylyGeneralized hypotoniaHepatic failureHepatosplenomegalyAscitesPolyhydramniosVentricular septal defectSplenomegalyVentriculomegalyHepatomegalyHypocalcemiaHypoproteinemiaAbdominal distentionFlat occiputRedundant neck skinPancreatic lymphangiectasisPulmonary lymphangiectasiaPostnatal growth retardationAlveolar ridge overgrowthAbnormal fallopian tube morphologyMidface retrusionAbnormal renal morphologyMicropenisProtein-losing enteropathy

Classification & Codes

MeSH Code

C536478

Orphanet Code

ORPHA:1655
mullerian derivatives-lymphangiectasia-polydactyly syndrome
MeSHC536478
OrphanetORPHA:1655
Treatments0 drug(s)
Symptoms on record41 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
mullerian derivatives-lymphangiectasia-polydactyly syndrome | OrphanDrug