ORPHA:1545
Crisponi syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Crisponi syndrome | |
| fr | Syndrome de Crisponi | |
| de | Crisponi-Syndrom | |
| es | Síndrome de Crisponi | |
| it | Sindrome di Crisponi | |
| nl | Syndroom van Crisponi | |
| pt | Síndrome Crisponi | |
| pl | Zespół Crisponiego | |
| cs | Crisponiho syndrom | |
| uk | Синдром Криспоні | |
| zh | Crisponi综合征 | |
| tr | Crisponi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272430 | NTBT | validated | |
| ICD-10 | G90.8 | NTBT | attributed | validated |
| ICD-11 | LD26.41 | NTBT | index | validated |
| MONDO | 0010091 | E | validated | |
| MeSH | C536214 | E | validated | |
| UMLS | C1832409 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:401993Cold-induced sweating syndrome-hyperthermia spectrum
rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLCF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17412 | ENSG00000175505 | 607672 | 11q13.2 | cardiotrophin like cytokine factor 1 | 20400119[PMID]_21370513[PMID] |
| CRLF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2364 | ENSG00000006016 | 604237 | 19p12 | cytokine receptor like factor 1 | 17436252[PMID]_21370513[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001522 | Death in infancy | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0000293 | Full cheeks | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001276 | Hypertonia | |
| HP:0000966 | Hypohidrosis | |
| HP:0002808 | Kyphosis | |
| HP:0100729 | Large face | |
| HP:0000343 | Long philtrum | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0001645 | Sudden cardiac death | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0000218 | High palate | |
| HP:0001376 | Limitation of joint mobility | |
| Occasional (29-5%) | ||
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1545
- This record as JSON: /data/d/1545.json