Overview
Maroteaux-Lamy syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Treatments & Interventions
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Always present (100%)HP:0004322
Flexion contractures
Always present (100%)HP:0001371
Scarring or clouding of the cornea of the eye
Always present (100%)HP:0007957
Split hand
Always present (100%)HP:0001171
Abnormal development of end part of bone
Very frequent (80-99%)HP:0002656
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Chronic ear infection
Very frequent (80-99%)HP:0000389
Coarse face
Very frequent (80-99%)HP:0000280
Corneal stromal opacity
Very frequent (80-99%)HP:0007759
Full lower lip
Very frequent (80-99%)HP:0000179
Hirsutism
Very frequent (80-99%)HP:0001007
Mitral regurgitation
Very frequent (80-99%)HP:0001653
Mucopolysacchariduria
Very frequent (80-99%)HP:0008155
Pachydermia
Very frequent (80-99%)HP:0001072
Recurrent URI
Very frequent (80-99%)HP:0002788
Short-trunked dwarfism
Very frequent (80-99%)HP:0003521
Sinus disease
Very frequent (80-99%)HP:0000246
Sleep apnea
Very frequent (80-99%)HP:0010535
Stiff joint
Very frequent (80-99%)HP:0001387
Thickening of the alae nasi
Very frequent (80-99%)HP:0009928
Umbilical hernia
Very frequent (80-99%)HP:0001537
Undergrowth
Very frequent (80-99%)HP:0001508
Abnormal formation of the hip
Frequent (30-79%)HP:0001385
Arthritic pain
Frequent (30-79%)HP:0002829
Broad ribs
Frequent (30-79%)HP:0000885
Caesarean section
Frequent (30-79%)HP:0011410
Constrictive median neuropathy
Frequent (30-79%)HP:0012185
Deafness
Frequent (30-79%)HP:0000365
Delayed eruption of teeth
Frequent (30-79%)HP:0000684
Dental cavities
Frequent (30-79%)HP:0000670
Related Conditions
Maroteaux-Lamy syndrome, intermediate form(child)
Maroteaux-Lamy syndrome, severe form(child)
Maroteaux-Lamy syndrome, mild form(child)
Mucopolysaccharidosis(parent)
Deficiency of N-acetylgalactosamine-4-sulfatase(parent)
Recessive hereditary disorder (autosomal)(parent)
Small stature(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 69463008
- UMLS CUI
- C0026709
- Fully Specified Name
- Maroteaux-Lamy 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.