ORPHA:808
Seckel syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare microcephalic primordial dwarfism characterized by severe proportionate short stature of prenatal onset, primary microcephaly, distinctive facial features, and mild to severe intellectual disability.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Seckel syndrome | |
| fr | Syndrome de Seckel | |
| de | Seckel-Syndrom | |
| es | Síndrome de Seckel | |
| it | Sindrome di Seckel | |
| nl | Syndroom van Seckel | |
| pt | Síndrome Seckel | Nanismo cabeça de pássaro |
| pl | Zespół Seckela | |
| cs | Seckelův syndrom | |
| uk | Синдром Секеля | |
| zh | Seckel综合征 | |
| tr | Seckel sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210600 | BTNT | validated | |
| OMIM | 606744 | BTNT | validated | |
| OMIM | 613676 | BTNT | validated | |
| OMIM | 613823 | BTNT | validated | |
| OMIM | 614728 | BTNT | validated | |
| OMIM | 614851 | BTNT | validated | |
| OMIM | 615807 | BTNT | validated | |
| OMIM | 616777 | BTNT | validated | |
| OMIM | 617253 | BTNT | validated | |
| OMIM | 617523 | BTNT | validated | |
| OMIM | 620767 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | inclusion | validated |
| ICD-11 | LD24.D | NTBT | index | validated |
| MONDO | 0019342 | E | validated | |
| MeSH | C537533 | E | validated | |
| UMLS | C0265202 | E | validated | |
| GARD | 8562 | 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 (2):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
15 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PCNT | Candidate gene tested in | Not yet assessed | HGNC:16068 | ENSG00000160299 | 605925 | 21q22.3 | pericentrin | 19643772[PMID] |
| PLK4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11397 | ENSG00000142731 | 605031 | 4q28.1 | polo like kinase 4 | 25344692[PMID]_25320347[PMID] |
| TRAIP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30764 | ENSG00000183763 | 605958 | 3p21.31 | TRAF interacting protein | 26595769[PMID] |
| ATR | Disease-causing germline mutation(s) in | Assessed | HGNC:882 | ENSG00000175054 | 601215 | 3q23 | ATR checkpoint kinase | 12640452[PMID] |
| ATRIP | Disease-causing germline mutation(s) in | Assessed | HGNC:33499 | ENSG00000164053 | 606605 | 3p21.31 | ATR interacting protein | 23144622[PMID]_20301772[PMID] |
| CENPE | Disease-causing germline mutation(s) in | Assessed | HGNC:1856 | ENSG00000138778 | 117143 | 4q24 | centromere protein E | 24748105[PMID] |
| CEP152 | Disease-causing germline mutation(s) in | Assessed | HGNC:29298 | ENSG00000103995 | 613529 | 15q21.1 | centrosomal protein 152 | 21131973[PMID] |
| CEP295 | Disease-causing germline mutation(s) in | Assessed | HGNC:29366 | ENSG00000166004 | 617728 | 11q21 | centrosomal protein 295 | 38154379[PMID] |
| CEP63 | Disease-causing germline mutation(s) in | Assessed | HGNC:25815 | ENSG00000182923 | 614724 | 3q22.2 | centrosomal protein 63 | 21983783[PMID] |
| CPAP | Disease-causing germline mutation(s) in | Assessed | HGNC:17272 | ENSG00000151849 | 609279 | 13q12.12-q12.13 | centrosome assembly and centriole elongation protein | 20522431[PMID] |
| DNA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2939 | ENSG00000138346 | 601810 | 10q21.3 | DNA replication helicase/nuclease 2 | 24389050[PMID] |
| NIN | Disease-causing germline mutation(s) in | Assessed | HGNC:14906 | ENSG00000100503 | 608684 | 14q22.1 | ninein | 22933543[PMID] |
| NSMCE2 | Disease-causing germline mutation(s) in | Assessed | HGNC:26513 | ENSG00000156831 | 617246 | 8q24.13 | NSE2 SUMO ligase component of SMC5/6 complex | 25105364[PMID] |
| NUP85 | Disease-causing germline mutation(s) in | Assessed | HGNC:8734 | ENSG00000125450 | 170285 | 17q25.1 | nucleoporin 85 | 34170319[PMID] |
| RBBP8 | Disease-causing germline mutation(s) in | Assessed | HGNC:9891 | ENSG00000101773 | 604124 | 18q11.2 | RB binding protein 8, endonuclease | 21998596[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 20301772[PMID] | |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Worldwide | Value and class | Validated | 34345934[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
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:0004326 | Cachexia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0000444 | Convex nasal ridge | |
| HP:0001363 | Craniosynostosis | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0000275 | Narrow face | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0001852 | Sandal gap | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0000387 | Absent earlobe | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000501 | Glaucoma | |
| HP:0001385 | Hip dysplasia | |
| HP:0001382 | Joint hypermobility | |
| HP:0002209 | Sparse scalp hair | |
| HP:0009804 | Tooth agenesis | |
| Occasional (29-5%) | ||
| HP:0002650 | Scoliosis | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/808
- This record as JSON: /data/d/808.json