Limb body wall complex
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LBWC syndrome |
| Number of Symptoms | 22 |
| OrphanetNr: | 2369 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic diaphragmatic or abdominal wall malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000062) | Ambiguous genitalia | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0000079) | Abnormality of the urinary system | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0000262) | Turricephaly | Occasional [Orphanet] | 38 / 7739 | |||
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(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0100559) | Lower limb asymmetry | Very frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0002808) | Kyphosis | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0002475) | Myelomeningocele | Frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0002817) | Abnormality of the upper limb | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0010305) | Absence of the sacrum | Frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0001543) | Gastroschisis | Very frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0002023) | Anal atresia | Frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0001545) | Anteriorly placed anus | Occasional [Orphanet] | 55 / 7739 | |||
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(HPO:0002566) | Intestinal malrotation | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
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(HPO:0002536) | Abnormal cortical gyration | Occasional [Orphanet] | 72 / 7739 | |||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Frequent [Orphanet] | 278 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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