EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome

disorder

SNOMED 1236844002CUI C3280679

Overview

EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome 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.

Central hypotonia

Always present (100%)HP:0001252

Deglutition disorder

Always present (100%)HP:0002015

Delay in head control

Always present (100%)HP:0002421

Laboured breathing

Always present (100%)HP:0002098

EMG: myopathic changes

Very frequent (80-99%)HP:0003458

Increased variation in muscle fibre size

Very frequent (80-99%)HP:0003557

Respiratory failure

Very frequent (80-99%)HP:0002878

Scoliosis

Very frequent (80-99%)HP:0002650

Absent deep tendon reflexes

Frequent (30-79%)HP:0001284

Eventration of the diaphragm

Frequent (30-79%)HP:0009110

Facial palsy

Frequent (30-79%)HP:0010628

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

High arched palate

Frequent (30-79%)HP:0000218

Less than 10 fetal movements in 12 hours

Frequent (30-79%)HP:0001558

Cleft of palate

Occasional (5-29%)HP:0000175

Muscle fibre necrosis

Occasional (5-29%)HP:0003713

Seizures

Occasional (5-29%)HP:0001250

Tongue fasciculations/fibrillations

Occasional (5-29%)HP:0001308

Abnormal motor nerve conduction velocity

Excluded (<1%)HP:0040131

Congenital hypotonia

HP:0001319

Diaphragmatic paraparesis

HP:0009113

Difficulty running

HP:0009046

Elevated serum creatine phosphokinase

Excluded (<1%)HP:0003236

Foot, talipes equinovarus

HP:0001762

Hyporeflexia

HP:0001265

Nasal speech

HP:0001611

No development of motor milestones

HP:0001270

Paralysed diaphragm

HP:0006597

Pectus excavatum

HP:0000767

Proximal interphalangeal finger joint contractures

HP:0100490

Related Conditions

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of skeletal muscle(parent)

Quick Facts

SNOMED CT: 1236844002
UMLS CUI: C3280679
Fully Specified Name: Early-onset myopathy, areflexia, respiratory distress, dysphagia 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.