Gnathodiaphyseal dysplasia
Synonyms: GDD
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gnathodiaphyseal dysplasia | GDD |
| fr | Dysplasie gnatho-diaphysaire | = en |
| de | Dysplasie, gnatho-diaphysäre | = en |
| es | Displasia gnatodiafisaria | = en |
| it | Displasia gnatodiafisaria | = en |
| nl | Gnathodiafysaire dysplasie | = en |
| pt | Displasia gnatodiafisária | |
| pl | Dysplazja szczękowo-trzonowa | = en |
| cs | Gnathodiafyzární dysplázie | = en |
| uk | Гнатодіафізарна дисплазія | = en |
| zh | 颌骨干发育不良 | = en |
| tr | Gnatodiyafizyal displazi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166260 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MONDO | 0008151 | E | validated | |
| UMLS | C1833736 | E | validated | |
| GARD | 8698 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANO5 | Disease-causing germline mutation(s) in | Assessed | HGNC:27337 | ENSG00000171714 | 608662 | 11p14.3 | anoctamin 5 | 23047743[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27068316[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006487 | Bowing of the long bones | |
| HP:0012802 | Broad jaw | |
| HP:0000935 | Thickened cortex of long bones | |
| Frequent (79-30%) | ||
| HP:0007626 | Mandibular osteomyelitis | |
| HP:0000938 | Osteopenia | |
| Occasional (29-5%) | ||
| HP:0002757 | Recurrent fractures | |
| HP:0002650 | Scoliosis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 24776605[PMID]_23047743[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53697
- This record as JSON: /data/d/53697.json