ORPHA:289
Ellis-Van Creveld syndrome
Synonyms: Chondroectodermal dysplasia · Mesodermic dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ellis-Van Creveld syndrome | Chondroectodermal dysplasia · Mesodermic dysplasia |
| fr | Syndrome d'Ellis-Van Creveld | Dysplasie chondroectodermique · Dysplasie mésoectodermique |
| de | Ellis Van Creveld-Syndrom | Chondroektodermale Dysplasie · Mesodermale Dysplasie |
| es | Síndrome de Ellis-Van Creveld | Displasia condroectodérmica · Displasia mesodérmica |
| it | Sindrome di Ellis-Van Creveld | Displasia condroectodermica · Displasia mesodermica |
| nl | Syndroom van Ellis-Van Creveld | Chondro-ectodermale dysplasie · Mesodermale dysplasie |
| pt | Síndrome Ellis Van Creveld | Displasia condroectodérmica |
| pl | Zespół Ellisa Van Crevelda | Dysplazja chondroektodermalna · Dysplazja mezodermalna |
| cs | Creveldův syndrom | Chondroektodermální dysplázie · Mezodermální dysplázie |
| uk | Синдром Елліса Ван Кревельда | Хондроектодермальна дисплазія · Мезодермальна дисплазія |
| zh | Ellis Van Creveld综合征 | 软骨外胚层发育不良 |
| tr | Ellis Van Creveld sendromu | Mezodermik displazi · Kondroektodermal displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225500 | E | validated | |
| OMIM | 617088 | BTNT | validated | |
| OMIM | 618123 | BTNT | validated | |
| OMIM | 619142 | BTNT | validated | |
| OMIM | 619143 | BTNT | validated | |
| ICD-10 | Q77.6 | NTBT | inclusion | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009162 | E | validated | |
| MeSH | D004613 | E | validated | |
| UMLS | C0013903 | E | validated | |
| GARD | 1301 | E | validated | |
| MedDRA | 10008724 | 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 (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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:156165Retinal ciliopathy
rare genetic diseases - ORPHA:1505Short rib-polydactyly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare respiratory diseases; rare bone diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLI1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4317 | ENSG00000111087 | 165220 | 12q13.3 | GLI family zinc finger 1 | 28973407[PMID] |
| DYNC2LI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:24595 | ENSG00000138036 | 617083 | 2p21 | dynein cytoplasmic 2 light intermediate chain 1 | 26130459[PMID] |
| EVC | Disease-causing germline mutation(s) in | Assessed | HGNC:3497 | ENSG00000072840 | 604831 | 4p16.2 | EvC ciliary complex subunit 1 | 23220543[PMID]_22791528[PMID]_19744229[PMID] |
| EVC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19747 | ENSG00000173040 | 607261 | 4p16.2 | EvC ciliary complex subunit 2 | 23220543[PMID]_22791528[PMID]_12571802[PMID] |
| PRKACA | Disease-causing germline mutation(s) in | Assessed | HGNC:9380 | ENSG00000072062 | 601639 | 19p13.12 | protein kinase cAMP-activated catalytic subunit alpha | 33058759[PMID] |
| PRKACB | Disease-causing germline mutation(s) in | Assessed | HGNC:9381 | ENSG00000142875 | 176892 | 1p31.1 | protein kinase cAMP-activated catalytic subunit beta | 33058759[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | >1 / 1000 | 500 / 100 000 | Specific population | Value and class | Validated | 10700162[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Worldwide | Value and class | Not yet validated | ISBN:9780313387135[OTHER]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
51 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0011830 | Abnormal oral mucosa morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001595 | Abnormality of the hair | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0001508 | Failure to thrive | |
| HP:0001829 | Foot polydactyly | |
| HP:0002857 | Genu valgum | |
| HP:0001161 | Hand polydactyly | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0002983 | Micromelia | |
| HP:0002164 | Nail dysplasia | |
| HP:0000774 | Narrow chest | |
| HP:0008921 | Neonatal short-limb short stature | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0010306 | Short thorax | |
| Frequent (79-30%) | ||
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0001631 | Atrial septal defect | |
| HP:0001241 | Capitate-hamate fusion | |
| HP:0011065 | Conical incisor | |
| HP:0000028 | Cryptorchidism | |
| HP:0001651 | Dextrocardia | |
| HP:0000039 | Epispadias | |
| HP:0000668 | Hypodontia | |
| HP:0000047 | Hypospadias | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000691 | Microdontia | |
| HP:0001696 | Situs inversus totalis | |
| HP:0000486 | Strabismus | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0011362 | Abnormal hair quantity | |
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0002488 | Acute leukemia | |
| HP:0002967 | Cubitus valgus | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002097 | Emphysema | |
| HP:0000072 | Hydroureter | |
| HP:0001249 | Intellectual disability | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0000233 | Thin vermilion border | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289
- This record as JSON: /data/d/289.json