Cranioectodermal dysplasia 4

General Information (adopted from Orphanet):

Synonyms, Signs: CED4
Number of Symptoms 51
OrphanetNr:
OMIM Id: 614378
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:0000510) Rod-cone dystrophy 266 / 7739
2
 (HPO:0000540) Hypermetropia 99 / 7739
3
 (HPO:0006532) Recurrent pneumonia rare [HPO:skoehler] 48 / 7739
4
 (HPO:0004322) Short stature 1232 / 7739
5
 (HPO:0005528) Bone marrow hypocellularity rare [HPO:skoehler] 31 / 7739
6
 (HPO:0001876) Pancytopenia 89 / 7739
7
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
8
 (HPO:0009836) Broad distal phalanx of finger 8 / 7739
9
 (HPO:0001822) Hallux valgus 70 / 7739
10
 (HPO:0010174) Broad phalanx of the toes 1 / 7739
11
 (HPO:0001765) Hammertoe 63 / 7739
12
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
13
 (HPO:0010554) Cutaneous finger syndactyly rare [HPO:skoehler] 39 / 7739
14
 (HPO:0001761) Pes cavus 225 / 7739
15
 (HPO:0001763) Pes planus 176 / 7739
16
 (HPO:0001838) Rocker bottom foot 85 / 7739
17
 (HPO:0001385) Hip dysplasia 242 / 7739
18
 (HPO:0000929) Abnormality of the skull 53 / 7739
19
 (HPO:0004442) Sagittal craniosynostosis rare [HPO:skoehler] 16 / 7739
20
 (HPO:0002007) Frontal bossing rare [HPO:skoehler] 366 / 7739
21
 (HPO:0000767) Pectus excavatum 244 / 7739
22
 (HPO:0000774) Narrow chest 167 / 7739
23
 (HPO:0001382) Joint hypermobility 231 / 7739
24
 (HPO:0001805) Thick nail 96 / 7739
25
 (HPO:0000293) Full cheeks rare [HPO:skoehler] 85 / 7739
26
 (HPO:0000319) Smooth philtrum rare [HPO:skoehler] 72 / 7739
27
 (HPO:0000233) Thin vermilion border rare [HPO:skoehler] 124 / 7739
28
 (HPO:0009904) Prominent ear helix 8 / 7739
29
 (HPO:0000411) Protruding ear rare [HPO:skoehler] 140 / 7739
30
 (HPO:0000973) Cutis laxa 43 / 7739
31
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
32
 (HPO:0000112) Nephropathy 92 / 7739
33
 (HPO:0003774) Stage 5 chronic kidney disease rare [HPO:skoehler] 78 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (MedDRA:10057471) Spleen palpable 2 / 7739
36
 (OMIM) Atypical cusps on maxillary first molars, mandibular first premolars, and canines 1 / 7739
37
 (OMIM) Bony protrusion of hard palate (in some patients) 1 / 7739
38
 (OMIM) Hip dysplasia, bilateral 2 / 7739
39
 (OMIM) Nephronophthisis-like nephropathy 1 / 7739
40
 (OMIM) Nyctalopia, congenital (in some patients) 1 / 7739
41
 (OMIM) Palpable liver 1 / 7739
42
 (OMIM) Recurrent asthma (in some patients) 1 / 7739
43
 (OMIM) Reduced lung capacity 1 / 7739
44
 (OMIM) Retinitis pigmentosa with preserved central vision 1 / 7739
45
 (OMIM) Short and broad distal phalanges 2 / 7739
46
 (OMIM) Short second and fifth phalanges 1 / 7739
47
 (OMIM) Short, broad phalanges 3 / 7739
48
 (OMIM) Short, narrow thorax 1 / 7739
49
 (OMIM) Short, thick ribs 1 / 7739
50
 (OMIM) Small second through fifth toes (in some patients) 1 / 7739
51
 (OMIM) Taurodontism of molars (in some patients) 1 / 7739

Associated genes:

WDR19;

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 Bredrup et al. (2011) described a 21-year-old Norwegian woman who was the second child of unrelated, healthy parents. At birth, she had developmental dysplasia of both hips and general hypotonia. At age 11 years, ophthalmoscopy revealed attenuated arteries ...
Molecular genetics OMIM In a sister and brother with clinical findings compatible with Sensenbrenner syndrome, from a Norwegian family in which haplotype analysis had excluded the 3 genes previously found to be mutated in Sensenbrenner syndrome, Bredrup et al. (2011) performed ...