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Zellweger syndrome

disorder
SNOMED 88469006CUI C0043459

Overview

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

Treatments & Interventions

Cholic acid

substance

Signs & Symptoms

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

Cerebral cortex atrophy
Always present (100%)HP:0002120
Elevated long chain fatty acids
Always present (100%)HP:0003455
Feeding difficulties
Always present (100%)HP:0011968
Hearing impairment
Always present (100%)HP:0000365
Increased distance between eyes
Always present (100%)HP:0000316
Low-set ears
Always present (100%)HP:0000369
Mental and motor retardation
Always present (100%)HP:0001263
PDA
Always present (100%)HP:0001643
Peripheral hypotonia
Always present (100%)HP:0001252
Redundant neck skin
Always present (100%)HP:0005989
Respiratory distress, neonatal
Always present (100%)HP:0002643
Single flexion crease
Always present (100%)HP:0000954
Speech and language difficulties
Always present (100%)HP:0000750
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Decreased body height
Very frequent (80-99%)HP:0004322
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
Diminished deep tendon reflexes
Very frequent (80-99%)HP:0001315
Dysplastic ears
Very frequent (80-99%)HP:0000377
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Enlarged liver
Very frequent (80-99%)HP:0002240
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Hepatic failure
Very frequent (80-99%)HP:0001399
High forehead
Very frequent (80-99%)HP:0000348
Intellectual impairment
Very frequent (80-99%)HP:0100543
Mongoloid slant
Very frequent (80-99%)HP:0000582
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Profound global developmental delay
Very frequent (80-99%)HP:0012736
Respiratory insufficiency
Very frequent (80-99%)HP:0002093
Scarring or clouding of the cornea of the eye
Very frequent (80-99%)HP:0007957
Severe muscular hypotonia
Very frequent (80-99%)HP:0006829

Related Conditions

Multiple malformation syndrome with unusual brain and/or neuromuscular findings(parent)
Peroxisome biogenesis disorder spectrum(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
88469006
UMLS CUI
C0043459
Fully Specified Name
Zellweger syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Known Treatments
1
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.