Lambert syndrome
MONDO:0009507Mondo
Findings
No curated finding names Lambert syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0009507), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Failure to thrive in infancyHPOHP:0001531
- Very frequent (80% to 99% of cases)
- Inguinal herniaHPOHP:0000023
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Intrahepatic biliary atresiaHPOHP:0005248
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Wide mouthHPOHP:0000154
- Very frequent (80% to 99% of cases)
- Branchial anomalyHPOHP:0009794
- Frequent (30% to 79% of cases)
- CholestasisHPOHP:0001396
- Frequent (30% to 79% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- JaundiceHPOHP:0000952
- Frequent (30% to 79% of cases)
Show the remaining 4
- Preauricular skin tagHPOHP:0000384
- Frequent (30% to 79% of cases)
- Ventricular septal defectHPOHP:0001629
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: Lambert syndrome
- Also called
- branchial dysplasia-intellectual disability-inguinal hernia syndrome