Cleidocranial dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Cleidocranial dysostosis
Number of Symptoms 78
OrphanetNr: 1452
OMIM Id: 119600
216330
ICD-10: Q74.0
UMLs: C0008928
MeSH: D002973
MedDRA:
Snomed: 65976001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cleidocranial dysplasia and isolated cranial ossification defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Cranial malformation
 -Rare developmental defect during embryogenesis
Genetic cranial malformation
 -Rare genetic disease
Rare disease with odontological manifestation
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
2
 (HPO:0000680) Delayed eruption of primary teeth 10 / 7739
3
 (HPO:0000274) Small face Frequent [Orphanet] 18 / 7739
4
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
5
 (HPO:0000696) Delayed eruption of permanent teeth 12 / 7739
6
 (HPO:0000242) Parietal bossing 11 / 7739
7
 (HPO:0002688) Absent frontal sinuses 12 / 7739
8
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
9
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
10
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
11
 (HPO:0000246) Sinusitis Frequent [Orphanet] 73 / 7739
12
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
13
 (HPO:0000218) High palate 356 / 7739
14
 (HPO:0004474) Persistent open anterior fontanelle 4 / 7739
15
 (HPO:0002689) Absent paranasal sinuses 4 / 7739
16
 (HPO:0002738) Hypoplastic frontal sinuses 6 / 7739
17
 (HPO:0002700) Large foramen magnum 6 / 7739
18
 (HPO:0011069) Increased number of teeth Very frequent [Orphanet] 39 / 7739
19
 (HPO:0004331) Decreased skull ossification Frequent [Orphanet] 31 / 7739
20
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
21
 (HPO:0000175) Cleft palate 349 / 7739
22
 (HPO:0000347) Micrognathia 426 / 7739
23
 (HPO:0005280) Depressed nasal bridge 381 / 7739
24
 (HPO:0000272) Malar flattening 277 / 7739
25
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
26
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
27
 (HPO:0011800) Midface retrusion 221 / 7739
28
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
29
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
30
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
31
 (HPO:0002684) Thickened calvaria 32 / 7739
32
 (HPO:0000189) Narrow palate 45 / 7739
33
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
34
 (HPO:0002645) Wormian bones Very frequent [Orphanet] 65 / 7739
35
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
36
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
37
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
38
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
39
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
40
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
41
 (HPO:0011001) Increased bone mineral density 78 / 7739
42
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
43
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
44
 (HPO:0003302) Spondylolisthesis 14 / 7739
45
 (HPO:0005259) Abnormal facility in opposing the shoulders 2 / 7739
46
 (HPO:0006040) Long second metacarpal 2 / 7739
47
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
48
 (HPO:0000773) Short ribs 70 / 7739
49
 (HPO:0009577) Short middle phalanx of the 2nd finger 4 / 7739
50
 (HPO:0008788) Delayed pubic bone ossification 5 / 7739
51
 (HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
52
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
53
 (HPO:0000894) Short clavicles 30 / 7739
54
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
55
 (HPO:0002808) Kyphosis 289 / 7739
56
 (HPO:0000891) Cervical ribs 8 / 7739
57
 (HPO:0003304) Spondylolysis 11 / 7739
58
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
59
 (HPO:0003183) Wide pubic symphysis 5 / 7739
60
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
61
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
62
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
63
 (HPO:0002812) Coxa vara 58 / 7739
64
 (HPO:0011867) Abnormality of the wing of the ilium Occasional [Orphanet] 123 / 7739
65
 (HPO:0100864) Short femoral neck 36 / 7739
66
 (HPO:0001182) Tapered finger Occasional [Orphanet] 93 / 7739
67
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
68
 (HPO:0005107) Abnormality of the sacrum Frequent [Orphanet] 18 / 7739
69
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
70
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
71
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
72
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
73
 (HPO:0008848) Moderately short stature 6 / 7739
74
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
75
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
76
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
77
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
78
 (HPO:0003396) Syringomyelia 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: