Autosomal recessive Kenny-Caffey syndrome
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive Kenny-Caffey syndrome | |
| fr | Syndrome de Kenny-Caffey autosomique récessif | |
| de | Kenny-Caffey-Syndrom, autosomal-rezessives | |
| es | Síndrome de Kenny-Caffey autosómico recesivo | |
| it | Sindrome di Kenny-Caffey autosomica recessiva | |
| nl | Autosomaal recessief syndroom van Kenny-Caffey | |
| pt | Síndrome Kenny-Caffey autossómica recessiva | |
| pl | Autosomalny recesywny zespół Kenny i Caffey | |
| cs | Autozomálně recesivní Kennyův-Caffeyův syndrom | Autozomálně recesivní Kenny-Caffeyův syndrom |
| uk | Аутосомно-рецесивний синдром Кенні-Каффі | |
| zh | 常染色体隐性遗传性Kenny-Caffey综合征 | |
| tr | Otozomal resesif Kenny-Caffey sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 244460 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.D | NTBT | index | validated |
| MONDO | 0009486 | E | validated | |
| MeSH | C537021 | E | validated | |
| UMLS | C1855648 | E | validated | |
| GARD | 8367 | 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 (1):
- ORPHA:2333Kenny-Caffey syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBCE | Disease-causing germline mutation(s) in | Assessed | HGNC:11582 | ENSG00000284770 | 604934 | 1q42.3 | tubulin folding cofactor E | 12389028[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
22 annotations · validated 2017-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008198 | Congenital hypoparathyroidism | |
| HP:0002901 | Hypocalcemia | |
| HP:0002199 | Hypocalcemic seizures | |
| Frequent (79-30%) | ||
| HP:0005450 | Calvarial osteosclerosis | |
| HP:0000670 | Carious teeth | |
| HP:0005791 | Cortical thickening of long bone diaphyses | |
| HP:0004331 | Decreased skull ossification | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000293 | Full cheeks | |
| HP:0001510 | Growth delay | |
| HP:0000316 | Hypertelorism | |
| HP:0003472 | Hypocalcemic tetany | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001773 | Short foot | |
| HP:0200055 | Small hand | |
| HP:0100254 | Stenosis of the medullary cavity of the long bones | |
| HP:0006645 | Thin clavicles | |
| HP:0006470 | Thin long bone diaphyses | |
| HP:0000883 | Thin ribs | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 12389028[PMID]_1308349[PMID]_2843457[PMID]_23087875[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93324
- This record as JSON: /data/d/93324.json