X-linked distal arthrogryposis multiplex congenita

disorder

SNOMED 719836007CUI C1844934

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.

Absent tendon reflexes

Always present (100%)HP:0001284

Central hypotonia

Always present (100%)HP:0001252

Decreased CMAP amplitude

Always present (100%)HP:0033383

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Head lag

Always present (100%)HP:0032988

Weak cry

Always present (100%)HP:0001612

Abnormal skeletal muscle fibre morphology

Very frequent (80-99%)HP:0004303

Anomaly of the anterior horn cells

Very frequent (80-99%)HP:0006802

Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord

Very frequent (80-99%)HP:0002398

EMG: neuropathic changes

Very frequent (80-99%)HP:0003445

Muscle atrophy, neurogenic

Very frequent (80-99%)HP:0003202

Poor sucking

Very frequent (80-99%)HP:0002033

Ankle flexion contracture

Frequent (30-79%)HP:0006466

Arthrogryposis multiplex

Frequent (30-79%)HP:0002804

Bone fracture

Frequent (30-79%)HP:0020110

Cupped ribs

Frequent (30-79%)HP:0000887

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Flexion contractures of hips

Frequent (30-79%)HP:0003273

High arched palate

Frequent (30-79%)HP:0000218

Hypotonia, early

Frequent (30-79%)HP:0008947

Inability to straighten knee

Frequent (30-79%)HP:0006380

Inflammatory myopathy

Frequent (30-79%)HP:0009071

Interphalangeal joint flexion contractures

Frequent (30-79%)HP:0001220

Laboured breathing

Frequent (30-79%)HP:0002098

Loss of articulate speech

Frequent (30-79%)HP:0002425

Myopathic facial appearance

Frequent (30-79%)HP:0002058

Proximal neurogenic muscle weakness

Frequent (30-79%)HP:0003701

Respiratory function loss

Frequent (30-79%)HP:0002093

Short ribs

Frequent (30-79%)HP:0000773

Spinal muscle wasting

Frequent (30-79%)HP:0007269

Related Conditions

Spinal muscular atrophy(parent)

Inherited arthrogryposis(parent)

X-linked distal hereditary motor neuropathy(parent)

X-linked recessive hereditary disease(parent)

Arthrogryposis multiplex congenita(parent)

Chronic arthropathy(parent)

Quick Facts

SNOMED CT: 719836007
UMLS CUI: C1844934
Fully Specified Name: X-linked distal arthrogryposis multiplex congenita (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.