King Denborough syndrome

Term ID

DOID:0080990

Synonyms

Definition

A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. https://www.ncbi.nlm.nih.gov/books/NBK1146/

References

• GARD:8433
• MESH:C536883
• MIM:619542
• ORDO:99741

Ontology

Human Disease   ( DOID:0080990 )