Chondrodysplasia punctata, Toriello type
historical
Synonyms: Toriello-Higgins-Miller syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chondrodysplasia punctata, Toriello type | Toriello-Higgins-Miller syndrome |
| fr | Chondrodysplasie ponctuée type Toriello | Syndrome de Toriello-Higgins-Miller |
| de | Chondrodysplasia punctata Typ Toriello | Toriello-Higgins-Miller-Syndrom |
| es | Condrodisplasia punctata tipo Toriello | Síndrome de Toriello-Higgins-Miller |
| it | Condrodisplasia puntata, tipo Toriello | Sindrome di Toriello-Higgins-Miller |
| nl | Chondrodysplasia punctata, Toriello-type | Syndroom van Toriello-Higgins-Miller |
| pt | Síndrome de Toriello-Higgins-Miller | |
| pl | Chondrodysplazja punktowa, typ Toriello | Zespół Toriello, Higginsa i Millera |
| cs | Chondrodysplasia punctata, Toriellův typ | Toriellův-Higginsův-Millerův syndrom · Toriello-Higgins-Millerův syndrom |
| uk | Хондродисплазія точкова, тип Торіелло | Синдром Торіелло-Хіггінса-Міллера |
| zh | 点状软骨发育不良，Toriello型 | Toriello-Higgins-Miller综合征 |
| tr | Kondrodisplazi punktata, Toriello tipi | Toriello-Higgins-Miller sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215105 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.04 | NTBT | index | validated |
| MONDO | 0008973 | E | validated | |
| UMLS | C4275076 | 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:176Non-rhizomelic chondrodysplasia punctata
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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 8267015[PMID]_9450859[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8267015[PMID]_9450859[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79347
- This record as JSON: /data/d/79347.json