Autosomal dominant osteosclerosis, Worth type

General Information (adopted from Orphanet):

Synonyms, Signs: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
OSTEOSCLEROSIS, AUTOSOMAL DOMINANT
Endosteal hyperostosis, Worth type
Worth syndrome
Number of Symptoms 37
OrphanetNr: 2790
OMIM Id: 144750
ICD-10: Q78.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

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:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
2
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
3
 (HPO:0010628) Facial palsy Occasional [Orphanet] 146 / 7739
4
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
5
 (HPO:0000689) Dental malocclusion 114 / 7739
6
 (HPO:0100789) Torus palatinus Very frequent [Orphanet] 6 / 7739
7
 (HPO:0004425) Flat forehead 6 / 7739
8
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
9
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
10
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
11
 (HPO:0006174) Metacarpal diaphyseal endosteal sclerosis 1 / 7739
12
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
13
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
14
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
15
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
16
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
17
 (HPO:0008114) Metatarsal diaphyseal endosteal sclerosis 1 / 7739
18
 (HPO:0000935) Thickened cortex of long bones 8 / 7739
19
 (HPO:0100923) Clavicular sclerosis 3 / 7739
20
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
21
 (HPO:0100861) Vertebral body sclerosis 1 / 7739
22
 (HPO:0001507) Growth abnormality 36 / 7739
23
 (OMIM) Mild sclerosis 1 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
 (OMIM) Endosteal sclerosis of cranium 1 / 7739
26
 (OMIM) Elongated mandible 1 / 7739
27
 (OMIM) Normal height 8 / 7739
28
 (OMIM) Increased mandibular bone density 1 / 7739
29
 (OMIM) Mild rib sclerosis 1 / 7739
30
 (OMIM) Increased gonial angle (AD osteosclerosis) 1 / 7739
31
 (OMIM) Increased calvarial density 1 / 7739
32
 (OMIM) Resistance of bone to fractures 1 / 7739
33
 (OMIM) Mild vertebral body sclerosis 1 / 7739
34
 (MedDRA:10044044) Tooth loss 6 / 7739
35
 (OMIM) Mild clavicular sclerosis 1 / 7739
36
 (OMIM) Loss of diploe 1 / 7739
37
 (OMIM) Decreased gonial angle (endosteal hyperostosis) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: