King-Denborough syndrome
Synonyms: Koussef-Nichols syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
King-Denborough syndrome is 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | King-Denborough syndrome | Koussef-Nichols syndrome |
| fr | Syndrome de King-Denborough | Syndrome de Koussef-Nichols |
| de | King-Denborough-Syndrom | Koussef-Nichols-Syndrom |
| es | Síndrome de King-Denborough | Síndrome de Koussef-Nichols |
| it | Sindrome di King-Denborough | Sindrome di Koussef-Nichols |
| nl | Syndroom van King-Denborough | Syndroom van Koussef-Nichols |
| pt | Síndrome de King-Denborough | |
| pl | Zespół Kinga i Denborougha | Zespół Koussefa i Nicholsa · Zespół Koussefa i Nicholsa |
| cs | Kingův-Denboroughův syndrom | Koussefův-Nicholsův syndrom · King-Denboroughův syndrom · Koussef-Nicholsův syndrom |
| uk | Синдром Кінга-Денборо | Синдром Куссефа-Ніколса |
| zh | King-Denborough综合征 | Koussef-Nichols 综合征 |
| tr | King-Denborough sendromu | Koussef-Nichols sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619542 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.Y | NTBT | index | validated |
| MONDO | 0020485 | E | validated | |
| MeSH | C536883 | E | validated | |
| UMLS | C1840365 | E | validated | |
| GARD | 8433 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98742Neurological muscular channelopathy due to a genetic ryanodine receptor defect
rare genetic diseases; rare neurological diseases - ORPHA:466658Rare disease with malignant hyperthermia
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RYR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10483 | ENSG00000196218 | 180901 | 19q13.2 | ryanodine receptor 1 | 21514828[PMID]_18765655[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 12738133[PMID]_18765655[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12738133[PMID]_18765655[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99741
- This record as JSON: /data/d/99741.json