Gnathodiaphyseal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS
GNATHODIAPHYSEAL SCLEROSIS
GDD
Number of Symptoms 19
OrphanetNr: 53697
OMIM Id: 166260
ICD-10:
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 decreased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Primary bone dysplasia with disorganized development of skeletal components
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
2
 (HPO:0000695) Natal tooth Frequent [Orphanet] 42 / 7739
3
 (HPO:0002857) Genu valgum 144 / 7739
4
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
5
 (HPO:0002979) Bowing of the legs 28 / 7739
6
 (HPO:0000938) Osteopenia 138 / 7739
7
 (HPO:0005045) Diaphyseal cortical sclerosis 2 / 7739
8
 (HPO:0002970) Genu varum 60 / 7739
9
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
10
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
11
 (HPO:0002754) Osteomyelitis Frequent [Orphanet] 37 / 7739
12
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
13
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
14
 (HPO:0010622) Neoplasm of the skeletal system Occasional [Orphanet] 30 / 7739
15
 (OMIM) Face deformity due to enlarged jaw bones 1 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (OMIM) Cemento-osseous lesions (maxilla and mandible) 1 / 7739
18
 (OMIM) Jaw infection (osteomyelitis) 1 / 7739
19
 (OMIM) Jaw lesions show fibroblasts in fibrous stromal tissue 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., ...
Clinical Description OMIM Akasaka et al. (1969) described a large Japanese family in which 21 individuals exhibited frequent bone fractures in adolescence and purulent osteomyelitis of the jaws during adult life, with autosomal dominant inheritance. Affected individuals experienced frequent bone fractures ...
Molecular genetics OMIM Tsutsumi et al. (2003) found no mutations in 8 genes shown by genome sequence data to be located in the GDD critical region.

In a further search for GDD candidate genes, Tsutsumi et al. (2004) investigated ...