Craniomicromelic syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under-ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniomicromelic syndrome | |
| fr | Syndrome cranio-micromélique | |
| de | Kranio-mikromeles Syndrom | |
| es | Síndrome cráneo-micromélico | |
| it | Sindrome craniomicromelica | |
| nl | Craniomicromelisch syndroom | |
| pt | Síndrome cranio-micromélico | |
| pl | Zespół czaszkowo-mikromeliczny | |
| cs | Kraniomikromelický syndrom | |
| uk | Краніомікромелічний синдром | |
| zh | 小颅骨综合征 | |
| tr | Kraniyomikromelik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602558 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0011253 | E | validated | |
| MeSH | C566522 | E | validated | |
| UMLS | C1865184 | E | validated | |
| GARD | 1583 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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/1524
- This record as JSON: /data/d/1524.json