Ellis Van Creveld syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MESOECTODERMAL DYSPLASIA
EVC
Mesodermic dysplasia
chondroectodermal dysplasia
Number of Symptoms 85
OrphanetNr: 289
OMIM Id: 225500
ICD-10: Q77.6
UMLs: C0013903
MeSH: D004613
MedDRA: 10008724
Snomed: 62501005

Prevalence, inheritance and age of onset:

Prevalence: 0.3 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Short rib-polydactyly syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000039) Epispadias 7 / 7739
4
 (HPO:0000077) Abnormality of the kidney Frequent [Orphanet] 73 / 7739
5
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
6
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
7
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
8
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
9
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
10
 (HPO:0000668) Hypodontia 81 / 7739
11
 (HPO:0006477) Abnormality of the alveolar ridges 1 / 7739
12
 (HPO:0010285) Oral synechia Frequent [Orphanet] 31 / 7739
13
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
14
 (HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
15
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
16
 (HPO:0000163) Abnormality of the oral cavity Very frequent [Orphanet] 37 / 7739
17
 (HPO:0000695) Natal tooth 42 / 7739
18
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
19
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
20
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
21
 (HPO:0000204) Cleft upper lip 193 / 7739
22
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
23
 (HPO:0001249) Intellectual disability Occasional [HPO:probinson] 1089 / 7739
24
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
25
 (HPO:0000768) Pectus carinatum 136 / 7739
26
 (HPO:0000888) Horizontal ribs 12 / 7739
27
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
28
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
29
 (HPO:0001241) Capitate-hamate fusion 6 / 7739
30
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
31
 (HPO:0002967) Cubitus valgus Occasional [Orphanet] 49 / 7739
32
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
33
 (HPO:0001762) Talipes equinovarus 309 / 7739
34
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
35
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
36
 (HPO:0001161) Hand polydactyly Very frequent [Orphanet] 71 / 7739
37
 (HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
38
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
39
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
40
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
41
 (HPO:0003026) Short long bone 51 / 7739
42
 (HPO:0006035) Cone-shaped epiphyses of phalanges 2 to 5 1 / 7739
43
 (HPO:0001829) Foot polydactyly Very frequent [Orphanet] 41 / 7739
44
 (HPO:0010454) Acetabular spurs 4 / 7739
45
 (HPO:0100259) Postaxial polydactyly 85 / 7739
46
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
47
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
48
 (HPO:0000773) Short ribs 70 / 7739
49
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
50
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
51
 (HPO:0008921) Neonatal short-limb short stature 12 / 7739
52
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
53
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
54
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
55
 (HPO:0002164) Nail dysplasia 82 / 7739
56
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
57
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
58
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
59
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
60
 (HPO:0001631) Atria septal defect Very frequent [Orphanet] 274 / 7739
61
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
62
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
63
 (HPO:0001651) Dextrocardia Frequent [Orphanet] 38 / 7739
64
 (HPO:0006695) Atrioventricular canal defect Very frequent [Orphanet] 27 / 7739
65
 (HPO:0011565) Common atrium 2 / 7739
66
 (HPO:0001654) Abnormality of the heart valves Very frequent [Orphanet] 49 / 7739
67
 (HPO:0005561) Abnormality of bone marrow cell morphology Occasional [Orphanet] 11 / 7739
68
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
69
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
70
 (HPO:0002097) Emphysema Occasional [Orphanet] 40 / 7739
71
 (OMIM) Single atrium 2 / 7739
72
 (OMIM) Short, poorly developed ribs 1 / 7739
73
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
74
 (OMIM) Spur-like projections at medialateral aspect of acetabula 1 / 7739
75
 (OMIM) Short, thickened tubular bones 1 / 7739
76
 (OMIM) Average adult height, 109 to 152 cm 1 / 7739
77
 (OMIM) Low iliac wings 1 / 7739
78
 (OMIM) Difficulty forming a fist 1 / 7739
79
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
80
 (OMIM) Normocephaly 10 / 7739
81
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
82
 (OMIM) Normal with exception of upper-lip defect 1 / 7739
83
 (OMIM) Other congenital heart defects 1 / 7739
84
 (OMIM) Partial cleft lip 1 / 7739
85
 (OMIM) Centrifugal shortening of limbs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth (Ruiz-Perez et al., 2000). Congenital cardiac defects, most commonly a defect of primary atrial septation producing ...
Clinical Description OMIM The largest pedigree was that observed by McKusick et al. (1964) in an inbred religious isolate, the Old Order Amish, in Lancaster County, Pennsylvania. Almost as many persons were known in this one kindred as had been reported ...
Molecular genetics OMIM By positional cloning, Ruiz-Perez et al. (2000) identified a novel gene, EVC (604831), that is mutated in individuals with Ellis-van Creveld syndrome (EVC). They identified a splice-donor change in an Amish pedigree, and 6 truncating mutations and a ...