Craniofacial dysostosis-diaphyseal hyperplasia syndrome
historical
Synonyms: Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type · Stanescu osteosclerosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
A rare primary bone dysplasia with increased bone density characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. The long bones are short and bent, and thickening of bone cortex occurs during the pubertal and post-pubertal periods and increases with age. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniofacial dysostosis-diaphyseal hyperplasia syndrome | Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type · Stanescu osteosclerosis |
| fr | Syndrome de dysostose craniofaciale-hyperplasie diaphysaire | Dysostose type Stanescu · Ostéosclérose type Stanescu · Ostéosclérose type Stanescu autosomique dominant |
| de | Kraniofaziale Dysostose-Diaphysenhyperplasie-Syndrom | Dysostose Typ Stanescu · Osteosklerose, autosomal-dominante, Typ Stanescu · Stanescu-Osteosklerose |
| es | Síndrome de disostosis craneofacial-hiperplasia diafisaria | Disostosis tipo Stanescu · Osteoesclerosis autómica dominante tipo Stanescu · Osteoesclerosis de Stanescu |
| it | Sindrome disostosi craniofacciale-iperplasia diafisaria | Disostosi craniofacciale - iperplasia diafisaria · Disostosi, tipo Stanescu · Osteosclerosi autosomica dominante, tipo Stanescu · Osteosclerosi di Stanescu |
| nl | Craniofaciale dysostose - diafysaire hyperplasie-syndroom | Autosomaal dominante osteosclerose, Stanescu-type · Dysostose, Stanescu-type · Osteosclerose, Stanescu-type |
| pt | Síndrome de disostose craniofacial-hiperplasia diafisária | Disostose, tipo Stanescu · Osteosclerose Stanescu · Osteosclerose autossómica dominante, tipo Stanescu |
| pl | Dyzostoza typu Stanescu | Autosomalna dominująca osteoskleroza, typu Stanescu · Dyzostoza czaszkowo-twarzowa - hiperplazja przynasad · Osteoskleroza Stanescu · Zespół dyzostozy czaszkowo-twarzowej i przerostu trzonów kości |
| cs | Dysostóza, Stanescuův typ | Syndrom zahrnující kraniofaciální dysostózu a diafyzární hyperplázii · Stanescuova osteoskleróza · Autozomálně dominantní osteoskleróza, Stanescuův typ |
| uk | Синдром черепно-лицевого дизостозу-діафізарної гіперплазії | Аутосомно-домінантний остеосклероз, тип Станеску · Дизостоз, тип Станеску · Остеосклероз Станеску |
| zh | 骨发育不全，Stanescu型 | 颅面骨发育不良-骨干增生综合征 |
| tr | Disostoz, Stanescu tipi | Stanescu osteoskleroz · Otozomal dominant osteoskleroz, Stanescu tipi · Kraniyofasiyal dizostoz-diyafizer hiperplazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122900 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0007396 | E | validated | |
| MeSH | C562974 | E | validated | |
| UMLS | C0432263 | E | validated | |
| GARD | 2016 | 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 (1):
- ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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
36 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005105 | Abnormal nasal morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0006487 | Bowing of the long bones | |
| HP:0001156 | Brachydactyly | |
| HP:0002514 | Cerebral calcification | |
| HP:0012368 | Flat face | |
| HP:0000316 | Hypertelorism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0011001 | Increased bone mineral density | |
| HP:0000158 | Macroglossia | |
| HP:0005665 | Massively thickened long bone cortices | |
| HP:0000252 | Microcephaly | |
| HP:0002983 | Micromelia | |
| HP:0011800 | Midface retrusion | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0000767 | Pectus excavatum | |
| HP:0004474 | Persistent open anterior fontanelle | |
| HP:0000520 | Proptosis | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0000670 | Carious teeth | |
| HP:0003307 | Hyperlordosis | |
| HP:0002808 | Kyphosis | |
| HP:0009804 | Tooth agenesis | |
| Occasional (29-5%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000444 | Convex nasal ridge | |
| HP:0100777 | Exostoses | |
| HP:0000470 | Short neck | |
| HP:0002645 | Wormian bones | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1798
- This record as JSON: /data/d/1798.json