Craniosynostosis-intracranial calcifications syndrome
Synonyms: Longman-Tolmie syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis-intracranial calcifications syndrome | Longman-Tolmie syndrome |
| fr | Syndrome de craniosynostose-calcifications intracrâniennes | Syndrome de Longman-Tolmie |
| de | Kraniosynostose-intrakranielle Kalzifizierung-Syndrom | Longman-Tolmie-Syndrom |
| es | Síndrome de craneosinostosis-calcificaciones intracraneales | Síndrome de Longman-Tolmie |
| it | Craniosinostosi - calcificazioni intracraniche | Sindrome di Longman-Tolmie |
| nl | Craniosynostose - intracraniële calcificaties-syndroom | Syndroom van Longman-Tolmie |
| pt | Síndrome de craniossinostose-calcificações intracranianas | Síndrome Longman-Tolmie |
| pl | Kraniosynostoza - zwapnienia wewnątrzczaszkowe | Zespół Longmana i Tolmiego |
| cs | Syndrom zahrnující kraniosynostózu a intrakraniální kalcifikaci | Longmanové-Tolmieho syndrom · Longman-Tolmieho syndrom |
| uk | Синдром краніосиностозу - внутрішньочерепних кальцифікатів | Синдром Лонгмана-Толмі |
| zh | 颅缝早闭-颅内钙化综合征 | Longman-Tolmie综合征 |
| tr | Kraniosinostozis-intrakraniyal kalsifikasyon sendromu | Longman-Tolmie sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608432 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0012035 | E | validated | |
| UMLS | C4303809 | 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:139393Syndromic craniosynostosis
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 | 14564206[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14564206[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/52054
- This record as JSON: /data/d/52054.json