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Berardinelli's syndrome

disorder
SNOMED 284449005CUI C0221032

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Adipose tissue loss
Very frequent (80-99%)HP:0008887
Body fails to respond to insulin
Very frequent (80-99%)HP:0000855
Enlarged liver
Very frequent (80-99%)HP:0002240
Hypertrophic muscles
Very frequent (80-99%)HP:0003712
Inability to make and keep healthy fat tissue
Very frequent (80-99%)HP:0009125
Diabetes mellitus
Frequent (30-79%)HP:0000819
Hypertrichosis
Frequent (30-79%)HP:0000998
Increased triglycerides
Frequent (30-79%)HP:0002155
Low intelligence
Frequent (30-79%)HP:0001249
Acanthosis nigricans
Occasional (5-29%)HP:0000956
Bone cyst
Occasional (5-29%)HP:0012062
Cardiac insufficiency
Occasional (5-29%)HP:0001635
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Cirrhosis
Occasional (5-29%)HP:0001394
Disproportionately large hands
Occasional (5-29%)HP:0001176
Distortion of face
Occasional (5-29%)HP:0001999
Early bone maturation
Occasional (5-29%)HP:0005616
Elevated total cholesterol
Occasional (5-29%)HP:0003124
Enlarged mandible
Occasional (5-29%)HP:0000303
Fatty liver
Occasional (5-29%)HP:0001397
Hyperinsulinemia
Occasional (5-29%)HP:0000842
Hypertrophy of supraorbital ridge
Occasional (5-29%)HP:0000336
Increased C-peptide level
Occasional (5-29%)HP:0030796
Lingual hyperplasia
Occasional (5-29%)HP:0000158
Long foot
Occasional (5-29%)HP:0001833
Low anterior hairline
Occasional (5-29%)HP:0000294
Low posterior hair line
Occasional (5-29%)HP:0002162
Overgrowth of external genitalia
Occasional (5-29%)HP:0003247
Poor weight gain
Occasional (5-29%)HP:0001508
Prominent clitoris
Occasional (5-29%)HP:0008665

Related Conditions

Lipodystrophy, intellectual disability, deafness syndrome(child)
Generalized congenital lipodystrophy with myopathy(child)
Lipodystrophy(parent)
Congenital connective tissue disorder(parent)
Fetal and/or neonatal disorder of integument(parent)

Quick Facts

SNOMED CT
284449005
UMLS CUI
C0221032
Fully Specified Name
Congenital total lipodystrophy (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.