ORPHA:85199
Craniosynostosis-anal anomalies-porokeratosis syndrome
Synonyms: CAP syndrome · CDAGS syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis-anal anomalies-porokeratosis syndrome | CAP syndrome · CDAGS syndrome |
| fr | Syndrome de craniosynostose-anomalies anales-porokératose | Syndrome CAP · Syndrome CDAGS |
| de | Kraniosynostose-anale Anomalien-Porokeratose-Syndrom | CAP-Syndrom · CDAGS-Syndrom |
| es | Síndrome de craneosinostosis-anomalías anales-poroqueratosis | Síndrome CAP · Síndrome CDAGS |
| it | Craniosinostosi - anomalie anali - porocheratosi | Sindrome CAP · Sindrome CDAGS |
| nl | Craniosynostose - anale anomalieën - porokeratose-syndroom | CAP-syndroom · CDAGS-syndroom |
| pt | Craniossinostose - anomalia anal - poroqueratose | |
| pl | Kraniosynostoza - wady odbytu - rogowacenie kanalikowe | Zespół CAP · Zespół CDAGS |
| cs | Syndrom zahrnující kraniosynostózu, anomálie anu a porokeratózu | CAP syndrom · CDAGS syndrom |
| uk | Синдром краніосиностозу-аномалії анального отвору-порокератозу | Синдром гострої коронарної недостатності · Синдром CDAGS |
| zh | 颅缝早闭-肛门畸形-汗孔角化综合征 | CDAGS综合征 |
| tr | Kraniosinostozis-anal anomaliler-porokeratoz sendromu | CAP sendromu · CDAGS sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603116 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011287 | E | validated | |
| MeSH | C536789 | E | validated | |
| UMLS | C1864186 | E | validated | |
| GARD | 9506 | 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 (2):
- ORPHA:93451Cleidocranial dysplasia and isolated cranial ossification defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2060Fukuda-Miyanomae-Nakata syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNU12 | Disease-causing germline mutation(s) in | Assessed | HGNC:19380 | ENSG00000276027 | 620204 | 22q13.2 | RNA, U12 small nuclear | 34085356[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 15924278[PMID]_24095818[PMID]_[EXPERT] | |
| 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.
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HPO phenotypes
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0002023 | Anal atresia | |
| HP:0006660 | Aplastic clavicles | |
| HP:0000248 | Brachycephaly | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0004397 | Ectopic anus | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0002007 | Frontal bossing | |
| HP:0000047 | Hypospadias | |
| HP:0004491 | Large posterior fontanelle | |
| HP:0002697 | Parietal foramina | |
| HP:0200044 | Porokeratosis | |
| HP:0010306 | Short thorax | |
| HP:0008368 | Tarsal synostosis | |
| HP:0012742 | Thin fingernail | |
| HP:0100589 | Urogenital fistula | |
| HP:0000260 | Wide anterior fontanel | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0000520 | Proptosis | |
| HP:0012471 | Thick vermilion border | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0002808 | Kyphosis | |
| HP:0001357 | Plagiocephaly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 15924278[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85199
- This record as JSON: /data/d/85199.json