ORPHA:2643
Microcephalic primordial dwarfism, Toriello type
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic primordial dwarfism, Toriello type | |
| fr | Nanisme microcéphalique primordial type Toriello | |
| de | Kleinwuchs, mikrozephaler primordialer, Typ Toriello | |
| es | Talla primordial microcefálica tipo Toriello | Enanismo primordial microcefálico tipo Toriello |
| it | Nanismo osteodisplasico primitivo, tipo Toriello | |
| nl | Microcefale primordiale dwerggroei, Toriello-type | |
| pt | Nanismo microcefálico primordial, tipo Toriello | |
| pl | Niskorosłość pierwotna mikrocefaliczna typu Toriello | |
| cs | Mikrocefalické primordiální trpaslictví, typ Toriellové | |
| uk | Мікроцефальна первинна карликовість, тип Торіелло | |
| zh | 小头先天性侏儒症，Toriello型 | |
| tr | Mikrosefalik primordiyal cücelik, Toriello tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251190 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.D | NTBT | index | validated |
| MONDO | 0009616 | E | validated | |
| MeSH | C537321 | E | validated | |
| UMLS | C1855089 | E | validated | |
| GARD | 3602 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:93440Slender bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3799711[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3799711[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.
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HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0000518 | Cataract | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0003510 | Severe short stature | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001252 | Hypotonia | |
| HP:0002119 | Ventriculomegaly | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2643
- This record as JSON: /data/d/2643.json