Curry-Jones syndrome
Synonyms: Corpus callosum agenesis-polysyndactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Curry-Jones syndrome | Corpus callosum agenesis-polysyndactyly syndrome |
| fr | Syndrome de Curry-Jones | Syndrome d'agénésie du corps calleux-polysyndactylie |
| de | Curry-Jones-Syndrom | Corpus-callosum-Agenesie - Polysyndaktylie |
| es | Síndrome de Curry-Jones | Agenesia de cuerpo calloso-polisindactilia |
| it | Sindrome di Curry-Jones | Agenesia del corpo calloso - polisindattilia |
| nl | Syndroom van Curry-Jones | Agenesie van het corpus callosum - polysyndactylie-syndroom |
| pt | Síndrome Curry-Jones | Agenesia do corpo caloso-polissindactilia |
| pl | Zespół Curry'ego i Jonesa | Agnezja ciała modzelowatego - polisyndaktylia |
| cs | Curryho-Jonesův syndrom | Syndrom zahrnující agenezi corpus callosum a polysyndaktylii · Curry-Jonesův syndrom |
| uk | Синдром Каррі-Джонса | Синдром агенезії мозолистого тіла - полісиндактилія |
| zh | Curry-Jones综合征 | 胼胝体发育不全-多指综合征 |
| tr | Curry-Jones sendromu | Korpus kallozum agenezi-polisindaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601707 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0011134 | E | validated | |
| UMLS | C0795915 | E | validated | |
| GARD | 5584 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMO | Disease-causing somatic mutation(s) in | Assessed | HGNC:11119 | ENSG00000128602 | 601500 | 7q32.1 | smoothened, frizzled class receptor | 27236920[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 18798318[PMID] | |
| 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.
HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0001053 | Hypopigmented skin patches | |
| Frequent (79-30%) | ||
| HP:0009602 | Abnormality of thumb phalanx | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0011304 | Broad thumb | |
| HP:0001363 | Craniosynostosis | |
| HP:0000324 | Facial asymmetry | |
| HP:0001829 | Foot polydactyly | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001249 | Intellectual disability | |
| HP:0000568 | Microphthalmia | |
| HP:0001770 | Toe syndactyly | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002566 | Intestinal malrotation | |
| HP:0000612 | Iris coloboma | |
| HP:0000588 | Optic disc coloboma | |
| HP:0001177 | Preaxial hand polydactyly | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1553
- This record as JSON: /data/d/1553.json