Cranioectodermal dysplasia 1

General Information (adopted from Orphanet):

Synonyms, Signs: CED1
Levin syndrome I
Sensenbrenner syndrome
Number of Symptoms 56
OrphanetNr:
OMIM Id: 218330
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Cranioectodermal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease
 -Rare respiratory disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001970) Tubulointerstitial nephritis 27 / 7739
2
 (HPO:0012622) Chronic kidney disease 32 / 7739
3
 (HPO:0000687) Widely spaced teeth 40 / 7739
4
 (HPO:0000668) Hypodontia 81 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0004442) Sagittal craniosynostosis 16 / 7739
7
 (HPO:0000691) Microdontia 104 / 7739
8
 (HPO:0002007) Frontal bossing 366 / 7739
9
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
10
 (HPO:0000268) Dolichocephaly 144 / 7739
11
 (HPO:0000431) Wide nasal bridge 290 / 7739
12
 (HPO:0000463) Anteverted nares 305 / 7739
13
 (HPO:0000506) Telecanthus 156 / 7739
14
 (HPO:0000674) Anodontia 18 / 7739
15
 (HPO:0000692) Misalignment of teeth 18 / 7739
16
 (HPO:0000601) Hypotelorism 83 / 7739
17
 (HPO:0000218) High palate 356 / 7739
18
 (HPO:0000293) Full cheeks 85 / 7739
19
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
20
 (HPO:0001135) Chorioretinal dystrophy 18 / 7739
21
 (HPO:0000639) Nystagmus 555 / 7739
22
 (HPO:0000556) Retinal dystrophy 65 / 7739
23
 (HPO:0000545) Myopia 286 / 7739
24
 (HPO:0007731) Chorioretinal dysplasia 16 / 7739
25
 (HPO:0007973) Retinal dysplasia 27 / 7739
26
 (HPO:0001837) Broad toe 13 / 7739
27
 (HPO:0000939) Osteoporosis 129 / 7739
28
 (HPO:0000774) Narrow chest 167 / 7739
29
 (HPO:0000954) Single transverse palmar crease 162 / 7739
30
 (HPO:0003071) Flattened epiphysis 14 / 7739
31
 (HPO:0000773) Short ribs 70 / 7739
32
 (HPO:0008905) Rhizomelia 85 / 7739
33
 (HPO:0001831) Short toe 52 / 7739
34
 (HPO:0003038) Fibular hypoplasia 30 / 7739
35
 (HPO:0001388) Joint laxity 117 / 7739
36
 (HPO:0000767) Pectus excavatum 244 / 7739
37
 (HPO:0005792) Short humerus 34 / 7739
38
 (HPO:0001538) Protuberant abdomen 36 / 7739
39
 (HPO:0006563) Malformation of the hepatic ductal plate 2 / 7739
40
 (HPO:0001399) Hepatic failure 80 / 7739
41
 (HPO:0001407) Hepatic cysts 9 / 7739
42
 (HPO:0002240) Hepatomegaly 467 / 7739
43
 (HPO:0001395) Hepatic fibrosis 67 / 7739
44
 (HPO:0008070) Sparse hair 94 / 7739
45
 (HPO:0002217) Slow-growing hair 22 / 7739
46
 (HPO:0001816) Thin nail 11 / 7739
47
 (HPO:0001799) Short nail 12 / 7739
48
 (HPO:0002213) Fine hair 77 / 7739
49
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
50
 (HPO:0002901) Hypocalcemia 56 / 7739
51
 (MedDRA:10072883) Brachydactyly 153 / 7739
52
 (OMIM) Normal intelligence 81 / 7739
53
 (OMIM) Occipital bossing 2 / 7739
54
 (OMIM) Short and broad distal phalanges 2 / 7739
55
 (MedDRA:10058668) Clinodactyly 91 / 7739
56
 (OMIM) Dental fusion 2 / 7739

Associated genes:

IFT122;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disorder characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies (summary by Gilissen et al., 2010).

- Genetic Heterogeneity of Cranioectodermal Dysplasia ...
Clinical Description OMIM Levin et al. (1977) described 5 children with dolichocephaly (with sagittal suture synostosis in 3), sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, brachydactyly, and narrow thorax. Intelligence was normal. Two were sibs and 2 others were ...
Molecular genetics OMIM In a consanguineous Polish family with cranioectodermal dysplasia mapping to chromosome 3q21-q24, Walczak-Sztulpa et al. (2010) sequenced 79 candidate genes and identified homozygosity for a missense mutation in the IFT122 gene (606045.0001) that segregated with the disease. Analysis ...