Heart defects - limb shortening
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 22 |
| OrphanetNr: | 1354 |
| OMIM Id: |
212135
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| ICD-10: |
Q87.2 |
| UMLs: |
C1859327 |
| MeSH: |
C535850 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0006644) | Thoracic dysplasia | 12 / 7739 | ||||
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(HPO:0000772) | Abnormality of the ribs | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | 113 / 7739 | ||||
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(HPO:0005616) | Accelerated skeletal maturation | Very frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0008905) | Rhizomelia | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0002808) | Kyphosis | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0000774) | Narrow chest | Very frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Very frequent [Orphanet] | 274 / 7739 | |||
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(HPO:0004414) | Abnormality of the pulmonary artery | Frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | Very frequent [Orphanet] | 316 / 7739 | |||
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(HPO:0001702) | Abnormality of the tricuspid valve | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0001633) | Abnormality of the mitral valve | Frequent [Orphanet] | 69 / 7739 | |||
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(OMIM) | Vertebral body coronal clefting | 1 / 7739 | ||||
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(OMIM) | Short | 4 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001522) | Death in infancy | Frequent [Orphanet] | 275 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
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(HPO:0011420) | Death | Frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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