ORPHA:1512
Crane-Heise syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Crane-Heise syndrome | |
| fr | Syndrome de Crane-Heise | |
| de | Crane-Heise-Syndrom | |
| es | Síndrome de Crane Heise | |
| it | Sindrome di Crane-Heise | |
| nl | Syndroom van Crane-Heise | |
| pt | Síndrome Crane-Heise | |
| pl | Zespół Crane'a i Heise'a | |
| cs | Craneův-Heiseův syndrom | Crane-Heiseův syndrom |
| uk | Синдром Крейна-Хейзе | |
| zh | Crane-Heise综合征 | |
| tr | Crane-Heise sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218090 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0009028 | E | validated | |
| MeSH | C536452 | E | validated | |
| UMLS | C1857532 | E | validated | |
| GARD | 8428 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 9 cases | Worldwide | Case(s) | Validated | 21094705[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21094705[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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0006660 | Aplastic clavicles | |
| HP:0000175 | Cleft palate | |
| HP:0004331 | Decreased skull ossification | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000316 | Hypertelorism | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001762 | Talipes equinovarus | |
| Frequent (79-30%) | ||
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0000028 | Cryptorchidism | |
| HP:0006101 | Finger syndactyly | |
| HP:0001387 | Joint stiffness | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1512
- This record as JSON: /data/d/1512.json