Congenital myopathy, cleft palate. malignant hyperthermia syndrome

disorder

SNOMED 723439002CUI C1850625

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.

Areflexia

Always present (100%)HP:0001284

Bilateral clubfeet

Always present (100%)HP:0001776

Cobb angle greater than ten degrees

Always present (100%)HP:0002650

Eye drop

Always present (100%)HP:0000508

Fatty replacement of skeletal muscle

Always present (100%)HP:0012548

Hypercarbia

Always present (100%)HP:0012416

Hypoxia

Always present (100%)HP:0012418

Increased intramyocellular lipid droplets

Always present (100%)HP:0012240

Low-set ears

Always present (100%)HP:0000369

Positive Gower sign

Always present (100%)HP:0003391

Proximal neurogenic muscle weakness

Always present (100%)HP:0003701

Weakness of face

Always present (100%)HP:0030319

Muscle weakness

Very frequent (80-99%)HP:0001324

Myopathic facial appearance

Very frequent (80-99%)HP:0002058

Abnormality of skeletal muscle fiber size

Frequent (30-79%)HP:0012084

Arthrogryposis multiplex

Frequent (30-79%)HP:0002804

Bilateral ptosis

Frequent (30-79%)HP:0001488

Cleft of palate

Frequent (30-79%)HP:0000175

Congenital joint contractures

Frequent (30-79%)HP:0002803

Cryptorchidism

Frequent (30-79%)HP:0000028

Curved spine

Frequent (30-79%)HP:0010674

Decreased body height

Frequent (30-79%)HP:0004322

Feeding difficulties

Frequent (30-79%)HP:0011968

Fetal foot inversion

Frequent (30-79%)HP:0001762

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

Malignant hyperthermia

Frequent (30-79%)HP:0002047

Muscular hypotonia

Frequent (30-79%)HP:0001252

Neurogenic muscle atrophy, especially in the lower limbs

Frequent (30-79%)HP:0003202

No development of motor milestones

Frequent (30-79%)HP:0001270

Progressive congenital scoliosis

Frequent (30-79%)HP:0008458

Related Conditions

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Cleft palate(parent)

Congenital anomaly of skeletal muscle(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 723439002
UMLS CUI: C1850625
Fully Specified Name: Native American myopathy (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.