ORPHA:93262
Crouzon syndrome-acanthosis nigricans syndrome
Synonyms: Crouzon-dermoskeletal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Crouzon syndrome-acanthosis nigricans syndrome | Crouzon-dermoskeletal syndrome |
| fr | Syndrome de Crouzon-acanthosis nigricans | |
| de | Crouzon-Syndrom-Acanthosis nigricans-Syndrom | |
| es | Síndrome de Crouzon con acantosis nigricans | Síndrome dermoesquelético de Crouzon |
| it | Sindrome di Crouzon - acanthosis nigricans | Sindrome dermoscheletrica di Crouzon |
| nl | Crouzonsyndroom - acanthosis nigricans | Crouzono-dermoskeletaal syndroom |
| pt | Síndrome Crouzon-acantose nigricans | Síndrome dermoesquelético Crouzon |
| pl | Zespół Crouzona - rogowacenie ciemne | Zespół Crouzona z anomaliami skórno-kostymi |
| cs | Crouzonův syndrom s acanthosis nigricans | Crouzonův dermoskeletální syndrom |
| uk | Синдром Крузона з чорним акантозом | Дермато-скелетний синдром Крузона |
| zh | 克鲁宗综合征-黑棘皮病综合征 | Crouzon-皮肤瘢痕综合征 |
| tr | Crouzon sendromu-akantozis nigrikans sendromu | Crouzon-dermoskeletal sendrom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612247 | E | validated | |
| ICD-10 | Q75.1 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0012833 | E | validated | |
| MeSH | C567382 | E | validated | |
| UMLS | C2677099 | 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:98684Craniostenosis with strabismus
rare genetic diseases; rare ophthalmic disorders - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 20301628[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Worldwide | Value and class | Validated | 23986840[PMID]_ISBN:019511843X[OTHER] |
| Point prevalence | Unknown | — | 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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0002308 | Chiari malformation | |
| HP:0000453 | Choanal atresia | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0000272 | Malar flattening | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0000486 | Strabismus | |
| HP:0000262 | Turricephaly | |
| Occasional (29-5%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0000444 | Convex nasal ridge | |
| HP:0002076 | Migraine | |
| HP:0000648 | Optic atrophy | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000505 | Visual impairment | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93262
- This record as JSON: /data/d/93262.json