Neurogenic arthrogryposis multiplex congenita

disorder

SNOMED 715316005CUI C1859721

Overview

Neurogenic arthrogryposis multiplex congenita is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Flexion contractures

Always present (100%)HP:0001371

EMG: chronic denervation signs

Very frequent (80-99%)HP:0003444

Absent deep tendon reflexes

Frequent (30-79%)HP:0001284

Ankle flexion contracture

Frequent (30-79%)HP:0006466

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Inability to straighten knee

Frequent (30-79%)HP:0006380

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Mildly elevated creatine kinase

Frequent (30-79%)HP:0008180

Muscle degeneration

Frequent (30-79%)HP:0003202

Upper limb muscle weakness

Frequent (30-79%)HP:0003484

Wrist contracture

Frequent (30-79%)HP:0001239

Abnormal dermatoglyphics

Occasional (5-29%)HP:0007477

Acetabular dysplasia

Occasional (5-29%)HP:0008807

Asymmetry of the posterior cranium

Occasional (5-29%)HP:0001357

Brain imaging abnormality

Occasional (5-29%)HP:0410263

Cardiac anomaly

Occasional (5-29%)HP:0001627

Decreased amniotic fluid index

Occasional (5-29%)HP:0001562

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Equinovarus deformity

Occasional (5-29%)HP:0008110

Feeding difficulties

Occasional (5-29%)HP:0011968

Feet or buttocks of fetus positioned near opening of uterus

Occasional (5-29%)HP:0001623

Flexion contractures of hips

Occasional (5-29%)HP:0003273

Increased distance between eyes

Occasional (5-29%)HP:0000316

Laboured breathing

Occasional (5-29%)HP:0002098

Less than 10 fetal movements in 12 hours

Occasional (5-29%)HP:0001558

Muscle fasciculation

Occasional (5-29%)HP:0002380

Myopathic facial appearance

Occasional (5-29%)HP:0002058

Respiratory failure due to muscle weakness

Occasional (5-29%)HP:0002747

Rocker bottom feet

Occasional (5-29%)HP:0001838

Related Conditions

Arthrogryposis with renal dysfunction and cholestasis syndrome(child)

Recessive hereditary disorder (autosomal)(parent)

Inherited arthrogryposis(parent)

Arthrogryposis multiplex congenita(parent)

Polyarthropathy associated with another disorder(parent)

Quick Facts

SNOMED CT: 715316005
UMLS CUI: C1859721
Fully Specified Name: Neurogenic 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.