Morse-Rawnsley-Sargent syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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31
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OrphanetNr:
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2570
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OMIM Id:
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306990
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ICD-10:
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Q04.2
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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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X-linked recessive inheritance
[Omim]
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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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Other syndrome with a central nervous system malformation as major feature
-Rare developmental defect during embryogenesis
-Rare neurologic disease
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1
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(HPO:0008678)
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Renal hypoplasia/aplasia |
Occasional [Orphanet]
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127 / 7739
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2
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(HPO:0000340)
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Sloping forehead |
Frequent [Orphanet]
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86 / 7739
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3
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(HPO:0000252)
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Microcephaly |
Very frequent [Orphanet]
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832 / 7739
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4
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(HPO:0000277)
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Abnormality of the mandible |
Occasional [Orphanet]
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394 / 7739
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5
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(HPO:0000581)
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Blepharophimosis |
Occasional [Orphanet]
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197 / 7739
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6
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(HPO:0000470)
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Short neck |
Frequent [Orphanet]
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345 / 7739
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7
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(HPO:0000490)
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Deeply set eye |
Occasional [Orphanet]
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131 / 7739
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8
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(HPO:0000357)
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Abnormal location of ears |
Frequent [Orphanet]
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328 / 7739
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9
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(HPO:0002828)
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Multiple joint contractures |
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16 / 7739
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10
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(HPO:0100490)
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Camptodactyly of finger |
Frequent [Orphanet]
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212 / 7739
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11
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(HPO:0001591)
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Bell-shaped thorax |
Frequent [Orphanet]
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35 / 7739
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12
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(HPO:0001387)
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Joint stiffness |
Very frequent [Orphanet]
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322 / 7739
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13
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(HPO:0001172)
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Abnormality of the thumb |
Occasional [Orphanet]
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103 / 7739
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14
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(HPO:0001558)
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Decreased fetal movement |
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74 / 7739
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15
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(HPO:0001989)
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Fetal akinesia sequence |
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14 / 7739
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16
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(HPO:0001511)
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Intrauterine growth retardation |
Occasional [Orphanet]
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358 / 7739
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17
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(HPO:0007477)
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Abnormal dermatoglyphics |
Occasional [Orphanet]
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72 / 7739
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18
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(HPO:0002103)
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Abnormality of the pleura |
Occasional [Orphanet]
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58 / 7739
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19
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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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20
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(HPO:0003202)
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Skeletal muscle atrophy |
Frequent [Orphanet]
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281 / 7739
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21
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(HPO:0002120)
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Cerebral cortical atrophy |
Occasional [Orphanet]
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187 / 7739
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22
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(OMIM)
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Markedly decreased fetal movement |
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1 / 7739
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23
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(OMIM)
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Congenital multiple joint contractures |
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1 / 7739
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24
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(HPO:0012443)
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Abnormality of brain morphology |
Very frequent [Orphanet]
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45 / 7739
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25
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(HPO:0002334)
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Abnormality of the cerebellar vermis |
Occasional [Orphanet]
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137 / 7739
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26
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(HPO:0001360)
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Holoprosencephaly |
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29 / 7739
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27
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(HPO:0010662)
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Abnormality of the diencephalon |
Occasional [Orphanet]
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6 / 7739
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28
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(HPO:0007370)
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Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
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180 / 7739
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29
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(HPO:0002324)
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Hydranencephaly |
Occasional [Orphanet]
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9 / 7739
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30
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(HPO:0011420)
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Death |
Very frequent [Orphanet]
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184 / 7739
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31
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(HPO:0001417)
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X-linked inheritance |
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173 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |