ORPHA:1452
Cleidocranial dysplasia
Synonyms: Cleidocranial dysostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleidocranial dysplasia | Cleidocranial dysostosis |
| fr | Dysostose cléidocrânienne | Dysplasie cléido-crânienne |
| de | Dysostose, kleidokraniale | Dysostosis cleidocranialis · Dysplasie, kleidokraniale |
| es | Displasia cleidocraneal | |
| it | Disostosi cleidocranica | Displasia cleidocranica |
| nl | Cleidocraniale dysplasie | Cleidocraniale dysostose |
| pt | Displasia cleidocraniana | Disostose cleidocraniana |
| pl | Dysplazja obojczykowo-czaszkowa | Dyzostoza obojczykowo-czaszkowa |
| cs | Kleidokraniální dysplázie | Kleidokraniální dysostóza |
| uk | Клейдокраніальна дисплазія | Клідокраніальний дизостоз |
| zh | 锁骨颅骨发育不良 | 锁骨颅骨发育不良 |
| tr | Kleidokranyal displazi | Kleidokraniyal dizostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119600 | BTNT | validated | |
| OMIM | 620099 | BTNT | validated | |
| ICD-10 | Q74.0 | NTBT | inclusion | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MeSH | D002973 | E | validated | |
| UMLS | C0008928 | E | validated | |
| GARD | 6118 | E | validated | |
| MedDRA | 10075994 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:93451Cleidocranial dysplasia and isolated cranial ossification defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183542Genetic cranial malformation
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RUNX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10472 | ENSG00000124813 | 600211 | 6p21.1 | RUNX family transcription factor 2 |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | United States | Value and class | Validated | 22461456[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
55 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000670 | Carious teeth | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0002007 | Frontal bossing | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0008821 | Hypoplastic inferior ilia | |
| HP:0000239 | Large fontanelles | |
| HP:0000347 | Micrognathia | |
| HP:0000774 | Narrow chest | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000894 | Short clavicles | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000340 | Sloping forehead | |
| HP:0011069 | Supernumerary tooth | |
| HP:0002645 | Wormian bones | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0010751 | Chin dimple | |
| HP:0000389 | Chronic otitis media | |
| HP:0004331 | Decreased skull ossification | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000364 | Hearing abnormality | |
| HP:0000365 | Hearing impairment | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0010807 | Open bite | |
| HP:0000939 | Osteoporosis | |
| HP:0011219 | Short face | |
| HP:0000246 | Sinusitis | |
| HP:0003298 | Spina bifida occulta | |
| Occasional (29-5%) | ||
| HP:0001172 | Abnormal thumb morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002812 | Coxa vara | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0002857 | Genu valgum | |
| HP:0000162 | Glossoptosis | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0000256 | Macrocephaly | |
| HP:0002757 | Recurrent fractures | |
| HP:0002650 | Scoliosis | |
| HP:0010535 | Sleep apnea | |
| HP:0001182 | Tapered finger | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1452
- This record as JSON: /data/d/1452.json