ORPHA:2050
Cole-Carpenter syndrome
Synonyms: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Neonatal
- Status
- active
An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cole-Carpenter syndrome | Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome |
| fr | Syndrome de Cole-Carpenter | Syndrome de fragilité osseuse-craniosynostose-proptose-hydrocéphalie |
| de | Cole-Carpenter-Syndrom | Knochenfragilität - Kraniosynostose - Proptosis - Hydrozephalus |
| es | Síndrome de Cole-Carpenter | Frágilidad ósea - craneosinostosis - proptosis - hidrocéfalo · Frágilidad ósea-craneosinostosis-proptosis-hidrocéfalo |
| it | Sindrome di Cole-Carpenter | Fragilità ossea - craniosinostosi - proptosi - idrocefalo |
| nl | Syndroom van Cole-Carpenter | Botfragiliteit - craniosynostose - proptose - hydrocefalus-syndroom |
| pt | Síndrome Cole-Carpenter | Síndrome de fragilidade óssea-craniossinostose-proptose-hidrocefalia |
| pl | Zespół Cole'a i Carpentera | Kruchość kości - kraniosynostoza - proptoza - wodogłowie |
| cs | Coleův-Carpenterův syndrom | Syndrom zahrnující kostní fragilitu, kraniosynostózu, proptózu a hydrocefalus · Cole-Carpenterův syndrom |
| uk | Синдром Коула-Карпентера | Крихкість кісток-краніосиностоз-проктоз-гідроцефальний синдром |
| zh | Cole-Carpenter综合征 | 脆性骨-颅缝早闭-突眼-脑积水综合征 |
| tr | Cole-Carpenter sendromu | Kemik kırılganlığı-kraniyosinostoz-proptoz-hidrosefali sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112240 | E | validated | |
| OMIM | 616294 | BTNT | validated | |
| ICD-10 | Q78.0 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0016085 | E | validated | |
| MeSH | C535963 | E | validated | |
| UMLS | C1862178 | E | validated | |
| GARD | 1425 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:98038Cranial malformation
rare developmental anomalies during embryogenesis - ORPHA:183542Genetic cranial malformation
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRTAP | Disease-causing germline mutation(s) in | Assessed | HGNC:2379 | ENSG00000170275 | 605497 | 3p22.3 | cartilage associated protein | 30462379[PMID] |
| P4HB | Disease-causing germline mutation(s) in | Assessed | HGNC:8548 | ENSG00000185624 | 176790 | 17q25.3 | prolyl 4-hydroxylase subunit beta | 25683117[PMID] |
| SEC24D | Disease-causing germline mutation(s) in | Assessed | HGNC:10706 | ENSG00000150961 | 607186 | 4q26 | SEC24 homolog D, COPII component | 25683121[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25683117[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25683117[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.
6
HPO phenotypes
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000592 | Blue sclerae | |
| HP:0006487 | Bowing of the long bones | |
| HP:0006367 | Crumpled long bones | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002007 | Frontal bossing | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000520 | Proptosis | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0001334 | Communicating hydrocephalus | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002808 | Kyphosis | |
| HP:0002757 | Recurrent fractures | |
| HP:0002650 | Scoliosis | |
| HP:0000262 | Turricephaly | |
| HP:0002645 | Wormian bones | |
| Occasional (29-5%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0001382 | Joint hypermobility | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2050
- This record as JSON: /data/d/2050.json