ORPHA:1317
CAMFAK syndrome
inactive · moved to ORPHA:1466COFS syndrome
Synonyms: CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome · Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to COFS syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CAMFAK syndrome | CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome · Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome |
| fr | Syndrome CAMFAK | Syndrome CAMAK · Syndrome de cataracte-microcéphalie-arthrogrypose-cyphose · Syndrome de cataracte-microcéphalie-retard stauro-pondéral-cyphoscoliose |
| de | CAMFAK-Syndrom | Katarakt-Mikrozephalie-Arthrogrypose-Kyphose-Syndrom · Katarakt-Mikrozephalie-Wachstumsstörung-Kyphoskoliose-Syndrom |
| es | Síndrome CAMFAK | |
| it | Sindrome CAMFAK | Cataratta - microcefalia - artrogriposi - cifosi · Cataratta - microcefalia - difetto di crescita - cifoscoliosi · Sindrome CAMAK |
| nl | CAMFAK-syndroom | CAMAK-syndroom · Cataract - microcefalie - artrogrypose - kyfose-syndroom · Cataract - microcefalie - groeifalen - kyfoscoliose-syndroom |
| pt | Síndrome CAMFAK | Síndrome de catarata-microcefalia-perturbação do desenvolvimento-cifoscoliose |
| pl | Zespół CAMFAK | Zaćma - małogłowie - artrogrypoza - kifoza · Zaćma - małogłowie - zahamowanie wzrostu - kifoskolioza · Zespół CAMAK |
| cs | CAMFAK syndrom | CAMAK syndrom · Syndrom zahrnující kataraktu, mikrocefalii, artrogrypózu a kyfózu · Syndrom zahrnující kataraktu, mikrocefalii, neprospívání a kyfoskoliózu |
| uk | Синдром CAMFAK | Синдром САМАК · Синдром катаракти-мікроцефалії-артрогрипозу-кіфозу · Синдром катаракти-мікроцефалії-відставання в розвитку-кіфосколіозу |
| zh | CAMFAK综合征 | 白内障-小头畸形-生长受限-脊柱后凸综合征 |
| tr | CAMFAK sendromu | CAMAK sendromu · Katarakt-mikrosefali-artrogripozis-kifoz sendromu · Katarakt-mikrosefali-kifoskolyoz sendromunun gelişememesi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212540 | E | validated | |
| UMLS | C1859312 | 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
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1317
- This record as JSON: /data/d/1317.json