Overview
Lambert syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Failure to thrive in first year of life
Very frequent (80-99%)HP:0001531
Inguinal hernia
Very frequent (80-99%)HP:0000023
Intrahepatic atresia of biliary duct
Very frequent (80-99%)HP:0005248
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Large mouth
Very frequent (80-99%)HP:0000154
Mental-retardation
Very frequent (80-99%)HP:0001249
Zygomatic flattening
Very frequent (80-99%)HP:0000272
Abnormality of branchial apparatus
Frequent (30-79%)HP:0009794
Decreased serum immunoglobulin
Frequent (30-79%)HP:0004313
Hypospadias
Frequent (30-79%)HP:0000047
Preauricular skin tags
Frequent (30-79%)HP:0000384
Slowed or blocked flow of bile from liver
Frequent (30-79%)HP:0001396
VSD
Frequent (30-79%)HP:0001629
Yellowing of the skin
Frequent (30-79%)HP:0000952
Central hypotonia
Occasional (5-29%)HP:0001252
Cerebellar hypoplasia/atrophy
Occasional (5-29%)HP:0007360
Foot, talipes equinovarus
HP:0001762
Quick Facts
- SNOMED CT
- 732961003
- UMLS CUI
- C1855551
- Fully Specified Name
- Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.