Malignant hyperthermia with arthrogryposis and torticollis syndrome

disorder

SNOMED 719398004CUI C4304748

Overview

Malignant hyperthermia with arthrogryposis and torticollis 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.

Abnormal mandible morphology

Very frequent (80-99%)HP:0000277

Arthrogryposis multiplex

Very frequent (80-99%)HP:0002804

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Flattening of cranial vault

Very frequent (80-99%)HP:0001357

Foot, talipes equinovarus

Very frequent (80-99%)HP:0001762

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Intoe

Very frequent (80-99%)HP:0001840

Mask-like facies

Very frequent (80-99%)HP:0000298

Muscle wasting

Very frequent (80-99%)HP:0003202

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Prominent frontal suture

Very frequent (80-99%)HP:0005487

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Pterygium colli

Very frequent (80-99%)HP:0000465

Tapering fingers

Very frequent (80-99%)HP:0001182

Torticollis, congenital

Very frequent (80-99%)HP:0005988

Ulnar Drift

Very frequent (80-99%)HP:0009465

Unbalanced face

Very frequent (80-99%)HP:0000324

Abnormal circulating aldolase concentration

Frequent (30-79%)HP:0012400

Abnormal circulating LDH concentration

Frequent (30-79%)HP:0045040

Abnormal levels of creatine kinase in blood

Frequent (30-79%)HP:0040081

Arachnodactyly

Frequent (30-79%)HP:0001166

Cleft of palate

Frequent (30-79%)HP:0000175

Cryptorchidism

Frequent (30-79%)HP:0000028

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Eyelid ptosis

Frequent (30-79%)HP:0000508

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Hypernasal voice

Frequent (30-79%)HP:0001611

Long palm

Frequent (30-79%)HP:0011302

Malignant hyperthermia

Frequent (30-79%)HP:0002047

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Torticollis(parent)

Recessive hereditary disorder (autosomal)(parent)

Malignant hyperthermia(parent)

Inherited arthrogryposis(parent)

Congenital anomaly of skeletal muscle(parent)

Congenital anomaly of neck(parent)

Congenital deformity of soft tissue(parent)

Arthrogryposis multiplex congenita(parent)

Congenital deformity of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 719398004
UMLS CUI: C4304748
Fully Specified Name: Malignant hyperthermia with arthrogryposis and torticollis 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.