Craniorachischisis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 7 |
| OrphanetNr: | 63260 |
| OMIM Id: |
|
| ICD-10: |
Q00.1 |
| UMLs: |
C0152426 |
| MeSH: |
|
| MedDRA: |
10011321 |
| Snomed: |
32219008 |
Prevalence, inheritance and age of onset:
| Prevalence: | 5 of 100 000 [Orphanet] |
| Inheritance: |
Multifactorial Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Neural tube closure defect
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0010497) | Sirenomelia | Occasional [Orphanet] | 6 / 7739 | |||
|
|
(HPO:0002414) | Spina bifida | Very frequent [Orphanet] | 47 / 7739 | |||
|
|
(HPO:0000775) | Abnormality of the diaphragm | Occasional [Orphanet] | 62 / 7739 | |||
|
|
(HPO:0001539) | Omphalocele | Occasional [Orphanet] | 102 / 7739 | |||
|
|
(HPO:0002023) | Anal atresia | Occasional [Orphanet] | 135 / 7739 | |||
|
|
(HPO:0002323) | Anencephaly | Very frequent [Orphanet] | 28 / 7739 | |||
|
|
(HPO:0001522) | Death in infancy | Very frequent [Orphanet] | 275 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|