Odontochondrodysplasia
Synonyms: Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia · Goldblatt syndrome · ODCD
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Odontochondrodysplasia | Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia · Goldblatt syndrome · ODCD |
| fr | Odontochondrodysplasie | Syndrome de chondrodysplasie-dentinogenèse imparfaite-laxité articulaire · Chondrodysplasie de Goldblatt · ODCD · Syndrome de Goldblatt |
| de | Odontochondrodysplasia | Chondrodysplasie-Dentinogenesis imperfecta-Gelenkhypermobilität-Syndrom · Goldblatt-Syndrom |
| es | Odontocondrodisplasia | Condrodisplasia de Goldblatt · Condrodisplasia-dentinogénesis imperfecta-laxitud articular · Condrodisplasia-dentinogénesis imperfecta-laxitud de las articulaciones · ODCD · Síndrome de Goldblatt |
| it | Odontocondrodisplasia | Condrodisplasia - dentinogenesi imperfetta - lassità articolare · Condrodisplasia di Goldblatt · ODCD · Odontocondrodisplasia |
| nl | Odontochondrodysplasie | Chondrodysplasie - dentinogenesis imperfecta - gewrichtslaxiteit-syndroom · Goldblatt-chondrodysplasie · ODCD · Syndroom van Goldblatt |
| pt | Síndrome de Goldblatt | |
| pl | Zespół Goldblatta | Chondrodysplazja - dentinogenesis imperfecta - wiotkość stawów · Chondrodysplazja Goldblatta · Dysplazja zębowo-chrzęstna · ODCD |
| cs | Goldblattův syndrom | Goldblattova chondrodysplázie · ODCD · Odontochondrodysplázie · Syndrom zahrnující chondrodysplázii, dentinogenesis imperfecta a hyperlaxicitu kloubů |
| uk | Одонтохондродисплазія | Хондродисплазія - недосконалий дентиногенез - синдром розхитаності суглобів · Хондродисплазія Гольдблатта · Синдром Гольдблатта · ODCD |
| zh | 骨软骨发育不良 | 软骨发育不良-牙本质发育不全-关节松弛综合征 |
| tr | Odontokondrodisplazi | ODCD · Goldblatt sendromu · Goldblatt kondrodisplazi · Kondrodisplazi-dentinogenez imperfekta-eklem gevşekliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184260 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | attributed | validated |
| MONDO | 0100325 | E | validated | |
| MONDO | 100325 | E | validated | |
| MeSH | C535792 | E | validated | |
| UMLS | C2745953 | E | validated | |
| GARD | 8717 | 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 (3):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:180766Malformative syndrome with dentinogenesis imperfecta
rare developmental anomalies during embryogenesis; rare genetic diseases; rare odontological diseases - ORPHA:254Spondylometaphyseal dysplasia
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 |
|---|---|---|---|---|---|---|---|---|
| TRIP11 | Disease-causing germline mutation(s) in | Assessed | HGNC:12305 | ENSG00000100815 | 604505 | 14q32.12 | thyroid hormone receptor interactor 11 | 30728324[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 18241073[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18241073[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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0000703 | Dentinogenesis imperfecta | |
| HP:0001382 | Joint hypermobility | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0000926 | Platyspondyly | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0002673 | Coxa valga | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002650 | Scoliosis | |
| HP:0003278 | Square pelvis | |
| Occasional (29-5%) | ||
| HP:0006487 | Bowing of the long bones | |
| HP:0001522 | Death in infancy | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002007 | Frontal bossing | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002098 | Respiratory distress | |
| HP:0000278 | Retrognathia | |
| HP:0003196 | Short nose | |
| HP:0000486 | Strabismus | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166272
- This record as JSON: /data/d/166272.json