Microcephaly-cervical spine fusion anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-cervical spine fusion anomalies syndrome | |
| fr | Syndrome de microcéphalie-fusions des vertèbres cervicales | |
| de | Syndrom der Mikrozephalie mit Fusionsanomalien der Halswirbelsäule | |
| es | Síndrome de microcefalia-anomalías de fusión de las vértebras cervicales | |
| it | Microcefalia - fusione delle vertebre cervicali | |
| nl | Microcefalie - fusie van cervicale wervelkolom-syndroom | |
| pt | Síndrome de microcefalia-fusão das vértebras cervicais | |
| pl | Małogłowie - anomalie szyjnego odcinka kręgosłupa | |
| cs | Syndrom zahrnující mikrocefalii a fúzi krční páteře | |
| uk | Синдром мікроцефалії та аномалії зрощення шийного відділу хребта | |
| zh | 小头畸形-颈椎融合畸形综合征 | |
| tr | Mikrosefali-servikal omurga füzyon anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251250 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD20.2 | NTBT | index | validated |
| MONDO | 0009621 | E | validated | |
| MeSH | C537325 | E | validated | |
| UMLS | C0796066 | E | validated | |
| GARD | 3610 | 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 (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:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological 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 | 2 cases | Worldwide | Case(s) | Validated | 5033742[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5033742[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0004312 | Abnormality of reticulocytes | |
| HP:0000444 | Convex nasal ridge | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0003307 | Hyperlordosis | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002808 | Kyphosis | |
| HP:0000369 | Low-set ears | |
| HP:0010620 | Malar prominence | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0012371 | Midface prominence | |
| HP:0000767 | Pectus excavatum | |
| HP:0000520 | Proptosis | |
| HP:0004322 | Short stature | |
| HP:0000340 | Sloping forehead | |
| HP:0002176 | Spinal cord compression | |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0001347 | Hyperreflexia | |
| HP:0000047 | Hypospadias | |
| HP:0000508 | Ptosis | |
| HP:0000470 | Short neck | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2522
- This record as JSON: /data/d/2522.json