Cranioectodermal dysplasia 3

General Information (adopted from Orphanet):

Synonyms, Signs: CED3
Number of Symptoms 41
OrphanetNr:
OMIM Id: 614099
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:0000090) Nephronophthisis 42 / 7739
2
 (HPO:0003774) Stage 5 chronic kidney disease rare [HPO:skoehler] 78 / 7739
3
 (HPO:0000506) Telecanthus rare [HPO:skoehler] 156 / 7739
4
 (HPO:0000232) Everted lower lip vermilion rare [HPO:skoehler] 90 / 7739
5
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
6
 (HPO:0000687) Widely spaced teeth 40 / 7739
7
 (HPO:0002007) Frontal bossing rare [HPO:skoehler] 366 / 7739
8
 (HPO:0004442) Sagittal craniosynostosis rare [HPO:skoehler] 16 / 7739
9
 (HPO:0000268) Dolichocephaly rare [HPO:skoehler] 144 / 7739
10
 (HPO:0004482) Relative macrocephaly 44 / 7739
11
 (HPO:0000685) Hypoplasia of teeth 12 / 7739
12
 (HPO:0000929) Abnormality of the skull 53 / 7739
13
 (HPO:0000256) Macrocephaly rare [HPO:skoehler] 298 / 7739
14
 (HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
15
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
16
 (HPO:0001159) Syndactyly 140 / 7739
17
 (HPO:0001388) Joint laxity 117 / 7739
18
 (HPO:0000774) Narrow chest 167 / 7739
19
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
20
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
21
 (HPO:0001394) Cirrhosis rare [HPO:skoehler] 102 / 7739
22
 (HPO:0004322) Short stature 1232 / 7739
23
 (HPO:0000958) Dry skin 152 / 7739
24
 (HPO:0000973) Cutis laxa 43 / 7739
25
 (HPO:0002213) Fine hair 77 / 7739
26
 (HPO:0001821) Broad nail 5 / 7739
27
 (HPO:0008070) Sparse hair 94 / 7739
28
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
29
 (HPO:0001799) Short nail 12 / 7739
30
 (HPO:0004969) Peripheral pulmonary artery stenosis rare [HPO:skoehler] 9 / 7739
31
 (OMIM) Sparse, fine hair 4 / 7739
32
 (MedDRA:10056528) Neonatal cholestasis 2 / 7739
33
 (OMIM) Short, broad nails 2 / 7739
34
 (OMIM) Shortening or bowing of humeri 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (OMIM) Webbing of fingers 1 / 7739
37
 (HPO:0001355) Megalencephaly 39 / 7739
38
 (OMIM) Sandal gap, bilateral (in some patients) 1 / 7739
39
 (OMIM) Rhizomelic limbs 1 / 7739
40
 (MedDRA:10072883) Brachydactyly 153 / 7739
41
 (OMIM) Sagittal suture synostosis 2 / 7739

Associated genes:

IFT43;

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 Arts et al. (2011) reported a sister and brother from a consanguineous family of Moroccan descent with cranioectodermal dysplasia. Both sibs had short stature, narrow thorax, rhizomelic shortening of limbs, hypoplastic and widely spaced teeth, and nephronophthisis. The ...
Molecular genetics OMIM In a brother and sister from a consanguineous family of Moroccan descent with cranioectodermal dysplasia mapping to chromosome 14, Arts et al. (2011) analyzed 2 candidate genes and identified homozygosity for a mutation in the translation initiation codon ...