ORPHA:1515
Cranioectodermal dysplasia
Synonyms: CED · Sensenbrenner syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cranioectodermal dysplasia | CED · Sensenbrenner syndrome |
| fr | Dysplasie cranio-ectodermique | CED · Syndrome de Sensenbrenner |
| de | Dysplasie, kranioektodermale | CED · Sensenbrenner-Syndrom |
| es | Displasia cráneo-ectodérmica | CED · Síndrome de Sensenbrenner |
| it | Displasia cranioectodermica | CED · Sindrome di Sensenbrenner |
| nl | Cranio-ectodermale dysplasie | CED · Syndroom van Sensenbrenner |
| pt | Displasia cranio-ectodérmica | CED · Síndrome Levin · Síndrome Sensenbrenner |
| pl | Dysplazja czaszkowo-ektodermalna | CED · Zespół Sensenbrenner |
| cs | Kranioektodermální dysplázie | CED · Sensenbrennerův syndrom |
| uk | Краніоектодермальна дисплазія | CED · Синдром Сенсенбреннера |
| zh | 颅骨外胚层发育不良 | Sensenbrenner综合征 |
| tr | Kraniyoektodermal displazi | CED · Sensenbrenner sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218330 | E | validated | |
| OMIM | 613610 | BTNT | validated | |
| OMIM | 614099 | BTNT | validated | |
| OMIM | 614378 | BTNT | validated | |
| OMIM | 617102 | BTNT | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009032 | E | validated | |
| UMLS | C4551571 | E | validated | |
| GARD | 359 | 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 (7):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:1505Short rib-polydactyly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare respiratory diseases; rare bone diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IFT122 | Disease-causing germline mutation(s) in | Assessed | HGNC:13556 | ENSG00000163913 | 606045 | 3q21.3-q22.1 | intraflagellar transport 122 | 22791528[PMID]_24027799[PMID]_21438135[PMID] |
| IFT43 | Disease-causing germline mutation(s) in | Assessed | HGNC:29669 | ENSG00000119650 | 614068 | 14q24.3 | intraflagellar transport 43 | 22791528[PMID]_24027799[PMID] |
| IFT52 | Disease-causing germline mutation(s) in | Assessed | HGNC:15901 | ENSG00000101052 | 617094 | 20q13.12 | intraflagellar transport 52 | 26880018[PMID]_27466190[PMID] |
| WDR19 | Disease-causing germline mutation(s) in | Assessed | HGNC:18340 | ENSG00000157796 | 608151 | 4p14 | WD repeat domain 19 | 22791528[PMID]_24027799[PMID] |
| WDR35 | Disease-causing germline mutation(s) in | Assessed | HGNC:29250 | ENSG00000118965 | 613602 | 2p24.1 | WD repeat domain 35 | 22791528[PMID]_24027799[PMID]_21438135[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 24027799[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24027799[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001156 | Brachydactyly | |
| HP:0000268 | Dolichocephaly | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0000691 | Microdontia | |
| HP:0000774 | Narrow chest | |
| HP:0000939 | Osteoporosis | |
| HP:0000269 | Prominent occiput | |
| HP:0008905 | Rhizomelia | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001363 | Craniosynostosis | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0006101 | Finger syndactyly | |
| HP:0000668 | Hypodontia | |
| HP:0000601 | Hypotelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0000767 | Pectus excavatum | |
| Occasional (29-5%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0008499 | High hypermetropia | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000679 | Taurodontia | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1515
- This record as JSON: /data/d/1515.json