Isolated spina bifida
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 25 |
| OrphanetNr: | 823 |
| OMIM Id: |
182940
301410 601634 |
| ICD-10: |
Q05 |
| UMLs: |
C0080178 |
| MeSH: |
D016135 |
| MedDRA: |
10041524 |
| Snomed: |
67531005 |
Prevalence, inheritance and age of onset:
| Prevalence: | 18.6 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:0002839) | Urinary bladder sphincter dysfunction | Frequent [Orphanet] | 34 / 7739 | |||
|
|
(HPO:0100639) | Erectile abnormalities | Frequent [Orphanet] | 15 / 7739 | |||
|
|
(HPO:0002006) | Facial cleft | Occasional [Orphanet] | 25 / 7739 | |||
|
|
(HPO:0002084) | Encephalocele | Occasional [Orphanet] | 70 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0011442) | Abnormality of central motor function | Frequent [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0003474) | Sensory impairment | Frequent [Orphanet] | 54 / 7739 | |||
|
|
(HPO:0001276) | Hypertonia | Occasional [Orphanet] | 317 / 7739 | |||
|
|
(HPO:0000772) | Abnormality of the ribs | Occasional [Orphanet] | 146 / 7739 | |||
|
|
(HPO:0002475) | Myelomeningocele | Very frequent [Orphanet] | 29 / 7739 | |||
|
|
(HPO:0003422) | Vertebral segmentation defect | Occasional [Orphanet] | 95 / 7739 | |||
|
|
(HPO:0001762) | Talipes equinovarus | Occasional [Orphanet] | 309 / 7739 | |||
|
|
(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
|
|
(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
|
|
(HPO:0002414) | Spina bifida | Very frequent [Orphanet] | 47 / 7739 | |||
|
|
(HPO:0002435) | Meningocele | Very frequent [Orphanet] | 23 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
|
|
(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
|
|
(HPO:0003396) | Syringomyelia | Occasional [Orphanet] | 16 / 7739 | |||
|
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(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 | |||
|
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(HPO:0002323) | Anencephaly | Occasional [Orphanet] | 28 / 7739 | |||
|
|
(HPO:0000238) | Hydrocephalus | Frequent [Orphanet] | 278 / 7739 | |||
|
|
(HPO:0002308) | Arnold-Chiari malformation | Frequent [Orphanet] | 42 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|