Dysostosis, Stanescu type

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOSCLEROSIS, STANESCU TYPE
Autosomal dominant osteosclerosis, Stanescu type
Craniofacial dysostosis - diaphyseal hyperplasia
Stanescu osteosclerosis
Number of Symptoms 49
OrphanetNr: 1798
OMIM Id: 122900
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with increased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
2
 (HPO:0002645) Wormian bones Occasional [Orphanet] 65 / 7739
3
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
4
 (HPO:0010299) Abnormality of dentin Very frequent [Orphanet] 9 / 7739
5
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
6
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
7
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
8
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
9
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
10
 (HPO:0004439) Craniofacial dysostosis 3 / 7739
11
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
12
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
13
 (HPO:0000444) Convex nasal ridge Occasional [Orphanet] 87 / 7739
14
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
15
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
16
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
17
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
18
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
19
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
20
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
21
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
22
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
23
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
24
 (HPO:0002751) Kyphoscoliosis 131 / 7739
25
 (HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
26
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
27
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
28
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
29
 (HPO:0002763) Abnormal cartilage morphology Very frequent [Orphanet] 15 / 7739
30
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
31
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
32
 (HPO:0000944) Abnormality of the metaphyses Occasional [Orphanet] 141 / 7739
33
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
34
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
35
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
36
 (HPO:0005665) Massively thickened long bone cortices 1 / 7739
37
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
38
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
39
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
40
 (HPO:0100777) Exostoses Occasional [Orphanet] 32 / 7739
41
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
42
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
43
 (OMIM) Short limbs 17 / 7739
44
 (MedDRA:10072883) Brachydactyly 153 / 7739
45
 (OMIM) Frontoparietal and occipitoparietal suture depressions 1 / 7739
46
 (OMIM) Poorly developed mandible 1 / 7739
47
 (OMIM) Thin cranial bone 1 / 7739
48
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
49
 (OMIM) Small skull 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: