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Myopathic EDS (Ehlers-Danlos syndrome)

disorder
SNOMED 1255116001CUI C5680153

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.

Flexion contractures
Very frequent (80-99%)HP:0001371
Ligamentous laxity
Very frequent (80-99%)HP:0001382
Delayed ability to stand
Frequent (30-79%)HP:0025335
Delayed ability to walk
Frequent (30-79%)HP:0031936
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Muscle weakness, generalised
Frequent (30-79%)HP:0003324
No development of motor milestones
Frequent (30-79%)HP:0001270
Ankle flexion contracture
Occasional (5-29%)HP:0006466
Areflexia
Occasional (5-29%)HP:0001284
Congenital bilateral hip dislocation
Occasional (5-29%)HP:0008780
Congenital finger contractures
Occasional (5-29%)HP:0005879
Congenital joint contractures
Occasional (5-29%)HP:0002803
Contractures of the hands
Occasional (5-29%)HP:0009473
Decreased muscle mass
Occasional (5-29%)HP:0003199
Delayed fine motor development
Occasional (5-29%)HP:0010862
Fallen arches
Occasional (5-29%)HP:0001763
Fixed flexion at the elbow joint
Occasional (5-29%)HP:0002987
Foot joint contracture
Occasional (5-29%)HP:0008366
Foot, talipes equinovarus
Occasional (5-29%)HP:0001762
Grey sclerae
Occasional (5-29%)HP:0000592
Hunched back
Occasional (5-29%)HP:0002808
Hypoplastic mandible condyle
Occasional (5-29%)HP:0000347
Hypotonia, in neonatal onset
Occasional (5-29%)HP:0001319
Inability to straighten knee
Occasional (5-29%)HP:0006380
Keratosis pilaris
Occasional (5-29%)HP:0032152
Kyphoscoliosis
Occasional (5-29%)HP:0002751
Laryngomalacia
Occasional (5-29%)HP:0001601
Mildly elevated creatine kinase
Occasional (5-29%)HP:0008180
Multiple joint contractures
Occasional (5-29%)HP:0002828
Muscular hypotonia
Occasional (5-29%)HP:0001252

Related Conditions

Autosomal hereditary disorder(parent)
Contracture of multiple joints(parent)
Ehlers-Danlos syndrome(parent)
Congenital anomaly of skeletal muscle(parent)

Quick Facts

SNOMED CT
1255116001
UMLS CUI
C5680153
Fully Specified Name
Myopathic Ehlers-Danlos 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.