Cranioectodermal dysplasia 2

General Information (adopted from Orphanet):

Synonyms, Signs: CED2
Number of Symptoms 26
OrphanetNr:
OMIM Id: 613610
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:0002007) Frontal bossing 366 / 7739
2
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
3
 (HPO:0000268) Dolichocephaly 144 / 7739
4
 (HPO:0000506) Telecanthus 156 / 7739
5
 (HPO:0000470) Short neck 345 / 7739
6
 (HPO:0000691) Microdontia 104 / 7739
7
 (HPO:0000687) Widely spaced teeth 40 / 7739
8
 (HPO:0001363) Craniosynostosis 132 / 7739
9
 (HPO:0000316) Hypertelorism 644 / 7739
10
 (HPO:0000581) Blepharophimosis 197 / 7739
11
 (HPO:0000377) Abnormality of the pinna 111 / 7739
12
 (HPO:0000369) Low-set ears 372 / 7739
13
 (HPO:0008905) Rhizomelia 85 / 7739
14
 (HPO:0001388) Joint laxity 117 / 7739
15
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
16
 (HPO:0000774) Narrow chest 167 / 7739
17
 (HPO:0000767) Pectus excavatum 244 / 7739
18
 (HPO:0001159) Syndactyly 140 / 7739
19
 (HPO:0000023) Inguinal hernia 181 / 7739
20
 (HPO:0004322) Short stature 1232 / 7739
21
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
22
 (HPO:0008070) Sparse hair 94 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (MedDRA:10072883) Brachydactyly 153 / 7739
25
 (OMIM) Dental fusion 2 / 7739
26
 (OMIM) Normal intelligence 81 / 7739

Associated genes:

WDR35;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive ...
Clinical Description OMIM Gilissen et al. (2010) reported 2 unrelated children with a similar phenotype that was reminiscent of Sensenbrenner syndrome (CED1; 218330). Both had short stature (less than 2.5 SD below the average), dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, ...
Molecular genetics OMIM In 2 unrelated patients with cranioectodermal dysplasia-2, Gilissen et al. (2010) identified compound heterozygous mutations in the WDR35 gene (613602.0001-613602.0004). Gilissen et al. (2010) postulated that the WDR35 mutations resulted in ciliary dysfunction due to disrupted intraflagellar transport. ...