Cranioectodermal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: CED
Sensenbrenner syndrome
Number of Symptoms 71
OrphanetNr: 1515
OMIM Id: 218330
613610
614099
614378
ICD-10: Q87.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 15 cases [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
Short rib-polydactyly syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare respiratory disease
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0001970) Tubulointerstitial nephritis 27 / 7739
2
 (HPO:0012622) Chronic kidney disease 32 / 7739
3
 (HPO:0005567) Renal magnesium wasting 5 / 7739
4
 (HPO:0000293) Full cheeks 85 / 7739
5
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
6
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
7
 (HPO:0000431) Wide nasal bridge 290 / 7739
8
 (HPO:0000679) Taurodontia Occasional [Orphanet] 27 / 7739
9
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
10
 (HPO:0000687) Widely spaced teeth 40 / 7739
11
 (HPO:0000218) High palate 356 / 7739
12
 (HPO:0000601) Hypotelorism Frequent [Orphanet] 83 / 7739
13
 (HPO:0004442) Sagittal craniosynostosis 16 / 7739
14
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
15
 (HPO:0000506) Telecanthus 156 / 7739
16
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
17
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
18
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
19
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
20
 (HPO:0010299) Abnormality of dentin Occasional [Orphanet] 9 / 7739
21
 (HPO:0000668) Hypodontia 81 / 7739
22
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
23
 (HPO:0000674) Anodontia 18 / 7739
24
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
25
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
26
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
27
 (HPO:0000556) Retinal dystrophy 65 / 7739
28
 (HPO:0000540) Hypermetropia Occasional [Orphanet] 99 / 7739
29
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
30
 (HPO:0009466) Radial deviation of finger 101 / 7739
31
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
32
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
33
 (HPO:0003038) Fibular hypoplasia 30 / 7739
34
 (HPO:0000954) Single transverse palmar crease 162 / 7739
35
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
36
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
37
 (HPO:0009880) Broad distal phalanges of all fingers 2 / 7739
38
 (HPO:0001837) Broad toe 13 / 7739
39
 (HPO:0000773) Short ribs 70 / 7739
40
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
41
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
42
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
43
 (HPO:0005792) Short humerus 34 / 7739
44
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
45
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
46
 (HPO:0001388) Joint laxity 117 / 7739
47
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
48
 (HPO:0003071) Flattened epiphysis 14 / 7739
49
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
50
 (HPO:0001831) Short toe 52 / 7739
51
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
52
 (HPO:0000939) Osteoporosis 129 / 7739
53
 (HPO:0004298) Abnormality of the abdominal wall 20 / 7739
54
 (HPO:0001399) Hepatic failure 80 / 7739
55
 (HPO:0001407) Hepatic cysts 9 / 7739
56
 (HPO:0001538) Protuberant abdomen 36 / 7739
57
 (HPO:0002240) Hepatomegaly 467 / 7739
58
 (HPO:0006563) Malformation of the hepatic ductal plate 2 / 7739
59
 (HPO:0001395) Hepatic fibrosis 67 / 7739
60
 (HPO:0001799) Short nail 12 / 7739
61
 (HPO:0002217) Slow-growing hair 22 / 7739
62
 (HPO:0001816) Thin nail 11 / 7739
63
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
64
 (HPO:0002213) Fine hair 77 / 7739
65
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
66
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
67
 (HPO:0008070) Sparse hair 94 / 7739
68
 (HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
69
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
70
 (HPO:0002901) Hypocalcemia 56 / 7739
71
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: