Short stature - wormian bones - dextrocardia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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GROWTH HORMONE DEFICIENCY WITH WORMIAN BONES, CARDIAC ANOMALY, AND BRACHYCAMPTODACTYLY
Stratton-Parker syndrome
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Number of Symptoms
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25
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OrphanetNr:
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2863
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OMIM Id:
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185120
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ICD-10:
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Q87.1
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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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Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare developmental defect during embryogenesis
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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:0000047)
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Hypospadias |
Very frequent [Orphanet]
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250 / 7739
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3
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(HPO:0000035)
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Abnormality of the testis |
Very frequent [Orphanet]
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296 / 7739
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4
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(HPO:0000436)
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Abnormality of the nasal tip |
Very frequent [Orphanet]
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18 / 7739
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5
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(HPO:0000277)
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Abnormality of the mandible |
Very frequent [Orphanet]
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394 / 7739
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6
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(HPO:0000187)
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Broad alveolar ridges |
Very frequent [Orphanet]
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14 / 7739
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7
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(HPO:0000494)
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Downslanted palpebral fissures |
Very frequent [Orphanet]
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328 / 7739
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8
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(HPO:0002645)
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Wormian bones |
Very frequent [Orphanet]
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65 / 7739
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9
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(HPO:0000288)
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Abnormality of the philtrum |
Very frequent [Orphanet]
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54 / 7739
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10
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(HPO:0002705)
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High, narrow palate |
Very frequent [Orphanet]
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308 / 7739
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11
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(HPO:0009804)
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Reduced number of teeth |
Very frequent [Orphanet]
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137 / 7739
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12
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(HPO:0000431)
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Wide nasal bridge |
Very frequent [Orphanet]
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290 / 7739
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13
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(HPO:0000684)
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Delayed eruption of teeth |
Very frequent [Orphanet]
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117 / 7739
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14
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(HPO:0000499)
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Abnormality of the eyelashes |
Very frequent [Orphanet]
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35 / 7739
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15
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(HPO:0000357)
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Abnormal location of ears |
Very frequent [Orphanet]
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328 / 7739
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16
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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17
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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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18
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(HPO:0100490)
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Camptodactyly of finger |
Very frequent [Orphanet]
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212 / 7739
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19
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(HPO:0002023)
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Anal atresia |
Very frequent [Orphanet]
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135 / 7739
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20
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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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21
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(HPO:0007477)
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Abnormal dermatoglyphics |
Very frequent [Orphanet]
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72 / 7739
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22
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(HPO:0001643)
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Patent ductus arteriosus |
Very frequent [Orphanet]
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228 / 7739
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23
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(HPO:0001651)
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Dextrocardia |
Very frequent [Orphanet]
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38 / 7739
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24
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(HPO:0040075)
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Hypopituitarism |
Very frequent [Orphanet]
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32 / 7739
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25
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |