Lethal chondrodysplasia, Moerman type
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Moerman-Vandenberghe-Fryns syndrome
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Number of Symptoms
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26
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OrphanetNr:
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1420
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OMIM Id:
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ICD-10:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Lethal chondrodysplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
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1
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(HPO:0008678)
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Renal hypoplasia/aplasia |
Very frequent [Orphanet]
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127 / 7739
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2
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(HPO:0000130)
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Abnormality of the uterus |
Very frequent [Orphanet]
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86 / 7739
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3
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(HPO:0000072)
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Hydroureter |
Very frequent [Orphanet]
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146 / 7739
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4
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(HPO:0001305)
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Dandy-Walker malformation |
Very frequent [Orphanet]
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79 / 7739
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5
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(HPO:0000174)
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Abnormality of the palate |
Very frequent [Orphanet]
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298 / 7739
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6
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(HPO:0000256)
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Macrocephaly |
Very frequent [Orphanet]
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298 / 7739
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7
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(HPO:0000592)
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Blue sclerae |
Very frequent [Orphanet]
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85 / 7739
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8
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(HPO:0001291)
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Abnormality of the cranial nerves |
Very frequent [Orphanet]
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27 / 7739
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9
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(HPO:0001172)
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Abnormality of the thumb |
Very frequent [Orphanet]
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103 / 7739
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10
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(HPO:0000944)
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Abnormality of the metaphyses |
Very frequent [Orphanet]
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141 / 7739
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11
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(HPO:0005930)
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Abnormality of epiphysis morphology |
Very frequent [Orphanet]
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119 / 7739
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12
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(HPO:0002983)
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Micromelia |
Very frequent [Orphanet]
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130 / 7739
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13
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(HPO:0003422)
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Vertebral segmentation defect |
Very frequent [Orphanet]
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95 / 7739
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14
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(HPO:0002808)
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Kyphosis |
Very frequent [Orphanet]
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289 / 7739
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15
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(HPO:0002650)
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Scoliosis |
Very frequent [Orphanet]
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705 / 7739
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16
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(HPO:0000774)
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Narrow chest |
Very frequent [Orphanet]
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167 / 7739
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17
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(HPO:0000921)
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Missing ribs |
Very frequent [Orphanet]
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62 / 7739
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18
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(HPO:0004279)
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Short palm |
Very frequent [Orphanet]
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323 / 7739
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19
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(HPO:0001561)
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Polyhydramnios |
Very frequent [Orphanet]
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191 / 7739
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20
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(HPO:0002566)
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Intestinal malrotation |
Very frequent [Orphanet]
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89 / 7739
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21
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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22
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(HPO:0030680)
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Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
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355 / 7739
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23
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(HPO:0004414)
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Abnormality of the pulmonary artery |
Very frequent [Orphanet]
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50 / 7739
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24
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(HPO:0001629)
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Ventricular septal defect |
Very frequent [Orphanet]
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316 / 7739
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25
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(HPO:0006703)
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Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
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79 / 7739
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26
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(HPO:0011420)
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Death |
Very frequent [Orphanet]
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184 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |