Axial mesodermal dysplasia spectrum
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Russell-Weaver-Bull syndrome Blastogenesis defect |
| Number of Symptoms | 43 |
| OrphanetNr: | 1834 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| UMLs: |
C2931613 |
| MeSH: |
C537790 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic anorectal malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000130) | Abnormality of the uterus | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0000079) | Abnormality of the urinary system | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0012581) | Solitary renal cyst | Very frequent [Orphanet] | 7 / 7739 | |||
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(HPO:0000072) | Hydroureter | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000078) | Abnormality of the genital system | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0100542) | Abnormal localization of kidney | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Very frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000168) | Abnormality of the gingiva | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000470) | Short neck | Very frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0001140) | Epibulbar dermoid | Very frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Very frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0012638) | Abnormality of nervous system physiology | Frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0003422) | Vertebral segmentation defect | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Very frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000924) | Abnormality of the skeletal system | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0002650) | Scoliosis | Very frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0010305) | Absence of the sacrum | Very frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0000921) | Missing ribs | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0002815) | Abnormality of the knee | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0001622) | Premature birth | Very frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0001197) | Abnormality of prenatal development or birth | Very frequent [Orphanet] | 9 / 7739 | |||
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(HPO:0001562) | Oligohydramnios | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0000775) | Abnormality of the diaphragm | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0004378) | Abnormality of the anus | Very frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0001539) | Omphalocele | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0002250) | Abnormality of the large intestine | Very frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0001743) | Abnormality of the spleen | Very frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0001080) | Biliary tract abnormality | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0002019) | Constipation | Frequent [Orphanet] | 194 / 7739 | |||
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(HPO:0002023) | Anal atresia | Very frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0002577) | Abnormality of the stomach | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0002575) | Tracheoesophageal fistula | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0012718) | Morphological abnormality of the gastrointestinal tract | Very frequent [Orphanet] | 5 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Very frequent [Orphanet] | 278 / 7739 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Very frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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