Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Johnson-Munson syndrome
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Number of Symptoms
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26
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OrphanetNr:
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1112
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OMIM Id:
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207620
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ICD-10:
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Q87.8
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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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3
cases
[Orphanet]
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Inheritance:
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Autosomal recessive
[Orphanet]
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Age of onset:
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Neonatal
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Syndrome with limb reduction defects
-Rare bone disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0012621)
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Persistent cloaca |
Frequent [Orphanet]
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1 / 7739
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2
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(HPO:0008678)
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Renal hypoplasia/aplasia |
Frequent [Orphanet]
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127 / 7739
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3
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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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4
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(HPO:0001163)
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Abnormality of the metacarpal bones |
Frequent [Orphanet]
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149 / 7739
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5
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(HPO:0009776)
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Adactyly |
Very frequent [Orphanet]
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11 / 7739
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6
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(HPO:0010745)
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Aplasia of the phalanges of the toes |
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1 / 7739
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7
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(HPO:0005886)
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Aphalangy of the hands |
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2 / 7739
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8
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(HPO:0001770)
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Toe syndactyly |
Frequent [Orphanet]
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149 / 7739
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9
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(HPO:0002937)
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Hemivertebrae |
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41 / 7739
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10
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(HPO:0010760)
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Absent toe |
Very frequent [Orphanet]
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15 / 7739
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11
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(HPO:0006101)
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Finger syndactyly |
Frequent [Orphanet]
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198 / 7739
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12
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(HPO:0001555)
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Asymmetry of the thorax |
Frequent [Orphanet]
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15 / 7739
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13
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(HPO:0011867)
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Abnormality of the wing of the ilium |
Frequent [Orphanet]
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123 / 7739
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14
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(HPO:0003042)
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Elbow dislocation |
Frequent [Orphanet]
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89 / 7739
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15
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(HPO:0200113)
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Aphalangy of hands and feet |
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1 / 7739
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16
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(HPO:0001562)
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Oligohydramnios |
Frequent [Orphanet]
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75 / 7739
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17
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(HPO:0002023)
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Anal atresia |
Frequent [Orphanet]
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135 / 7739
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18
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(HPO:0001804)
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Hypoplastic fingernail |
Frequent [Orphanet]
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62 / 7739
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19
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(HPO:0001629)
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Ventricular septal defect |
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316 / 7739
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20
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(HPO:0001643)
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Patent ductus arteriosus |
Frequent [Orphanet]
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228 / 7739
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21
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(HPO:0002089)
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Pulmonary hypoplasia |
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80 / 7739
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22
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(HPO:0006703)
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Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
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79 / 7739
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23
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(HPO:0012815)
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Hypoplastic female external genitalia |
Frequent [Orphanet]
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36 / 7739
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24
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(OMIM)
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Dysgenesis of urogenital tract and rectum |
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1 / 7739
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25
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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26
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(OMIM)
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Symphalangism of both index fingers in heterozygotes |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |