Craniosynostosis, Philadelphia type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis, Philadelphia type | |
| fr | Craniosynostose type Philadelphie | |
| de | Kraniosynostose Typ Philadelphia | |
| es | Craneosinostosis tipo Filadelfia | |
| it | Craniosinostosi, tipo Filadelfia | |
| nl | Craniosynostose, Philadelphia-type | |
| pt | Craniossinostose, tipo Filadélfia | |
| pl | Kraniosynostoza typu Filadelfia | |
| cs | Kraniosynostóza, filadelfský typ | |
| uk | Краніосиностоз, філадельфійський тип | |
| zh | 颅缝早闭，Philadelphia型 | |
| tr | Kraniosinostoz, Philadelphia tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185900 | NTBT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0015467 | E | validated | |
| MeSH | C563368 | E | validated | |
| UMLS | C1832590 | E | validated | |
| GARD | 1601 | 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 (2):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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 | 1 families | Worldwide | Family(ies) | Validated | 8882401[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8882401[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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001363 | Craniosynostosis | |
| HP:0006101 | Finger syndactyly | |
| HP:0000637 | Long palpebral fissure | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1527
- This record as JSON: /data/d/1527.json