Deficiency of N-acetylgalactosamine-4-sulfatase

disorder

SNOMED 52677002CUI C0026709

Overview

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

Treatments & Interventions

Galsulfase

substance

Signs & Symptoms

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

Corneal opacity

Always present (100%)HP:0007957

Decreased body height

Always present (100%)HP:0004322

Flexion contractures

Always present (100%)HP:0001371

Split hand

Always present (100%)HP:0001171

Abnormal development of the ends of long bones in arms and legs

Very frequent (80-99%)HP:0002656

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Chronic middle 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

Hirsutism

Very frequent (80-99%)HP:0001007

Increased height of lower lip vermilion

Very frequent (80-99%)HP:0000179

Mitral regurgitation

Very frequent (80-99%)HP:0001653

Mucopolysacchariduria

Very frequent (80-99%)HP:0008155

Pachydermia

Very frequent (80-99%)HP:0001072

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Recurrent URI

Very frequent (80-99%)HP:0002788

Short-trunked dwarfism

Very frequent (80-99%)HP:0003521

Sinusitis

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

Arthralgias

Frequent (30-79%)HP:0002829

Broad ribs

Frequent (30-79%)HP:0000885

Bullet vertebral body

Frequent (30-79%)HP:0003300

Caesarean section

Frequent (30-79%)HP:0011410

Constrictive median neuropathy

Frequent (30-79%)HP:0012185

Delayed eruption of teeth

Frequent (30-79%)HP:0000684

Dental cavities

Frequent (30-79%)HP:0000670

Developmental dysplasia of the hip

Frequent (30-79%)HP:0001385

Related Conditions

Maroteaux-Lamy syndrome(child)

Deficiency of cerebroside-sulfatase(parent)

Quick Facts

SNOMED CT: 52677002
UMLS CUI: C0026709
Fully Specified Name: Deficiency of N-acetylgalactosamine-4-sulfatase (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.