A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. [ Orphanet:99741 ]
Synonyms: Koussef-Nichols syndrome
Term information
- MEDGEN:327082 (MONDO:equivalentTo)
- MESH:C537504 (MONDO:equivalentTo)
- UMLS:C1840365 (MONDO:equivalentTo)
- OMIM:619542 (MONDO:equivalentTo)
- MESH:C536883 (Orphanet:99741/e)
- SCTID:764957003 (MONDO:equivalentTo)
- Orphanet:99741 (MONDO:equivalentTo)
- GARD:8433 (MONDO:GARD)
gard_rare, matrix_llm__is_cancer_other, ordo_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, rare, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, ordo_malformation_syndrome, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease
http://identifiers.org/medgen/327082
http://identifiers.org/mesh/C537504
http://linkedlifedata.com/resource/umls/id/C1840365
https://omim.org/entry/619542
http://identifiers.org/snomedct/764957003
http://identifiers.org/mesh/C536883
http://www.orpha.net/ORDO/Orphanet_99741
Kousseff Nichols syndrome
anesthetic-induced malignant hyperpyrexia in children
King Denborough syndrome
Noonan like contracture myopathy hyperpyrexia