ORPHA:1465
Coffin-Siris syndrome
Synonyms: CSS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coffin-Siris syndrome | CSS |
| fr | Syndrome de Coffin-Siris | = en |
| de | Coffin-Siris-Syndrom | = en |
| es | Síndrome de Coffin-Siris | = en |
| it | Sindrome di Coffin-Siris | = en |
| nl | Syndroom van Coffin-Siris | = en |
| pt | Síndrome Coffin-Siris | |
| pl | Zespół Coffina i Siris | = en |
| cs | Coffinův-Sirisův syndrom | CSS · Coffin-Sirisův syndrom |
| uk | Синдром Коффіна-Сіріса | = en |
| zh | Coffin-Siris综合征 | = en |
| tr | Coffin-Siris sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 135900 | BTNT | validated | |
| OMIM | 614607 | BTNT | validated | |
| OMIM | 614608 | BTNT | validated | |
| OMIM | 614609 | BTNT | validated | |
| OMIM | 615866 | BTNT | validated | |
| OMIM | 616938 | BTNT | validated | |
| OMIM | 617808 | BTNT | validated | |
| OMIM | 618027 | BTNT | validated | |
| OMIM | 618362 | BTNT | validated | |
| OMIM | 618506 | BTNT | validated | |
| OMIM | 618779 | BTNT | validated | |
| OMIM | 619325 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0015452 | E | validated | |
| MeSH | C536436 | E | validated | |
| UMLS | C0265338 | E | validated | |
| GARD | 6124 | E | validated | |
| MedDRA | 10083941 | 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 (3):
- 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:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
11 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARID2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18037 | ENSG00000189079 | 609539 | 12q12 | AT-rich interaction domain 2 | 28124119[PMID] |
| ARID1A | Disease-causing germline mutation(s) in | Assessed | HGNC:11110 | ENSG00000117713 | 603024 | 1p36.11 | AT-rich interaction domain 1A | 23556151[PMID] |
| ARID1B | Disease-causing germline mutation(s) in | Assessed | HGNC:18040 | ENSG00000049618 | 614556 | 6q25.3 | AT-rich interaction domain 1B | 23556151[PMID] |
| DPF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9964 | ENSG00000133884 | 601671 | 11q13.1 | double PHD fingers 2 | 29429572[PMID] |
| SMARCA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11100 | ENSG00000127616 | 603254 | 19p13.2 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | 23556151[PMID] |
| SMARCB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11103 | ENSG00000099956 | 601607 | 22q11.23 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | 23556151[PMID] |
| SMARCC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11105 | ENSG00000139613 | 601734 | 12q13.2 | SWI/SNF related BAF chromatin remodeling complex subunit C2 | 30580808[PMID] |
| SMARCD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11106 | ENSG00000066117 | 601735 | 12q13.12 | SWI/SNF related BAF chromatin remodeling complex subunit D1 | 30879640[PMID] |
| SMARCE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11109 | ENSG00000073584 | 603111 | 17q21.2 | SWI/SNF related BAF chromatin remodeling complex subunit E1 | 23556151[PMID]_23906836[PMID]_23929686[PMID] |
| SOX11 | Disease-causing germline mutation(s) in | Assessed | HGNC:11191 | ENSG00000176887 | 600898 | 2p25.2 | SRY-box transcription factor 11 | 24886874[PMID] |
| SOX4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11200 | ENSG00000124766 | 184430 | 6p22.3 | SRY-box transcription factor 4 | 30661722[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 190 cases | Worldwide | Case(s) | Validated | 22711679[PMID]_11170086[PMID]_23906836[PMID]_24092917[PMID]_23929686[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.
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HPO phenotypes
65 annotations · validated 2021-04-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000280 | Coarse facial features | |
| HP:0011968 | Feeding difficulties | |
| HP:0000998 | Hypertrichosis | |
| HP:0011231 | Prominent eyelashes | |
| HP:0001792 | Small nail | |
| HP:0000574 | Thick eyebrow | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000463 | Anteverted nares | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0000708 | Atypical behavior | |
| HP:0000455 | Broad nasal tip | |
| HP:0000289 | Broad philtrum | |
| HP:0030084 | Clinodactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0008947 | Floppy infant | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001007 | Hirsutism | |
| HP:0008398 | Hypoplastic fifth fingernail | |
| HP:0011937 | Hypoplastic fifth toenail | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001382 | Joint hypermobility | |
| HP:0000294 | Low anterior hairline | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000508 | Ptosis | |
| HP:0002719 | Recurrent infections | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0009237 | Short 5th finger | |
| HP:0003196 | Short nose | |
| HP:0002209 | Sparse scalp hair | |
| HP:0000486 | Strabismus | |
| HP:0009928 | Thick nasal alae | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000505 | Visual impairment | |
| HP:0012810 | Wide nasal base | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000718 | Aggressive behavior | |
| HP:0001631 | Atrial septal defect | |
| HP:0000729 | Autistic behavior | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0100790 | Hernia | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000752 | Hyperactivity | |
| HP:0000047 | Hypospadias | |
| HP:0000545 | Myopia | |
| HP:0012523 | Oral aversion | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0009879 | Simplified gyral pattern | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0002884 | Hepatoblastoma | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0002895 | Papillary thyroid carcinoma | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 23556151[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1465
- This record as JSON: /data/d/1465.json