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Congenita hypotonic - sclerotic muscular dystrophy

disorder
SNOMED 240062007CUI C4551860

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.

Abnormal palate morphology
Very frequent (80-99%)HP:0000174
Abnormal skeletal muscle fibre morphology
Very frequent (80-99%)HP:0004303
Elevated circulating creatine phosphokinase
Very frequent (80-99%)HP:0003236
EMG: myopathic changes
Very frequent (80-99%)HP:0003458
Flexion contractures
Very frequent (80-99%)HP:0001371
Hunched back
Very frequent (80-99%)HP:0002808
Increased endomysial connective tissue
Very frequent (80-99%)HP:0100297
Increased laxity of fingers
Very frequent (80-99%)HP:0006149
Increased variation in muscle fibre size
Very frequent (80-99%)HP:0003557
Muscle weakness, generalised
Very frequent (80-99%)HP:0003324
Spinal rigidity
Very frequent (80-99%)HP:0003306
Wrist hypermobility
Very frequent (80-99%)HP:0005072
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Diminished diaphragmatic motion
Frequent (30-79%)HP:0009113
Dislocated femoral heads
Frequent (30-79%)HP:0002827
Esotropia
Frequent (30-79%)HP:0000565
Fixed flexion at the elbow joint
Frequent (30-79%)HP:0002987
Frequent falls
Frequent (30-79%)HP:0002359
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Inability to straighten knee
Frequent (30-79%)HP:0006380
Increased length of toes
Frequent (30-79%)HP:0010511
Less than 10 fetal movements in 12 hours
Frequent (30-79%)HP:0001558
Muscle atrophy, generalised
Frequent (30-79%)HP:0003700
Muscle weakness
Frequent (30-79%)HP:0001324
Pes valgus
Frequent (30-79%)HP:0008081
Respiratory failure
Frequent (30-79%)HP:0002878
Short neck
Frequent (30-79%)HP:0000470
Slender fingers
Frequent (30-79%)HP:0001238
Thumb-in-palm pattern
Frequent (30-79%)HP:0001181

Related Conditions

Congenital hereditary muscular dystrophy(parent)

Quick Facts

SNOMED CT
240062007
UMLS CUI
C4551860
Fully Specified Name
Ullrich congenital muscular dystrophy (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.