Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Accelerated linear growth
Very frequent (80-99%)HP:0000098
Cancer
Very frequent (80-99%)HP:0002664
Fetal macrosomia
Very frequent (80-99%)HP:0001520
Abnormal earlobe morphology
Frequent (30-79%)HP:0000363
Abnormal morphology of the midface
Frequent (30-79%)HP:0000309
Choroideremia
Frequent (30-79%)HP:0001139
Coarse face
Frequent (30-79%)HP:0000280
Crease in skin under the eye
Frequent (30-79%)HP:0100876
Decreased projection of midface
Frequent (30-79%)HP:0011800
Diaphragmatic hernia
Frequent (30-79%)HP:0000776
Early bone maturation
Frequent (30-79%)HP:0005616
Enlarged kidney
Frequent (30-79%)HP:0000105
Exocrine pancreatic insufficiency
Frequent (30-79%)HP:0001738
Hemihypertrophy
Frequent (30-79%)HP:0001528
Hypercalciuria
Frequent (30-79%)HP:0002150
Hyperinsulinemia
Frequent (30-79%)HP:0000842
Hypertrophy of mandible
Frequent (30-79%)HP:0000303
Increased amniotic fluid index
Frequent (30-79%)HP:0001561
Indentation in back of outer ear
Frequent (30-79%)HP:0008523
Kidney disease
Frequent (30-79%)HP:0000112
Large mouth
Frequent (30-79%)HP:0000154
Large placenta
Frequent (30-79%)HP:0006267
Linear earlobe crease
Frequent (30-79%)HP:0031510
Lingual hyperplasia
Frequent (30-79%)HP:0000158
Long umbilical cord
Frequent (30-79%)HP:0011417
Loose redundant skin
Frequent (30-79%)HP:0001582
Low blood sugar
Frequent (30-79%)HP:0001943
Medullary cystic disease
Frequent (30-79%)HP:0008659
Neonatal hypoglycemia
Frequent (30-79%)HP:0001998
Nephrocalcinosis
Frequent (30-79%)HP:0000121
Related Conditions
Congenital omphalocele(parent)
Gigantism(parent)
Multiple malformation syndrome with early overgrowth(parent)
Congenital macroglossia(parent)
Hereditary disorder of endocrine system(parent)
Digestive system hereditary disorder(parent)
Hereditary disorder of nervous system(parent)
Hereditary neoplastic syndrome(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 81780002
- UMLS CUI
- C0004903
- Fully Specified Name
- Beckwith-Wiedemann syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.