Short stature - heart defect - craniofacial anomalies
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Rommen-Mueller-Sybert syndrome
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Number of Symptoms
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25
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OrphanetNr:
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1088
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OMIM Id:
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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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Autosomal recessive 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:0000494)
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Downslanted palpebral fissures |
Frequent [Orphanet]
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328 / 7739
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2
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(HPO:0002714)
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Downturned corners of mouth |
Frequent [Orphanet]
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98 / 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 |
Frequent [Orphanet]
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394 / 7739
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5
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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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6
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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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7
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(HPO:0000343)
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Long philtrum |
Frequent [Orphanet]
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262 / 7739
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8
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(HPO:0010285)
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Oral synechia |
Frequent [Orphanet]
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31 / 7739
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9
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(HPO:0000248)
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Brachycephaly |
Frequent [Orphanet]
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222 / 7739
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10
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(HPO:0001357)
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Plagiocephaly |
Frequent [Orphanet]
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106 / 7739
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11
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(HPO:0011265)
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Cleft earlobe |
Frequent [Orphanet]
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12 / 7739
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12
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(HPO:0001250)
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Seizures |
Very frequent [Orphanet]
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1245 / 7739
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13
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(HPO:0001315)
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Reduced tendon reflexes |
Very frequent [Orphanet]
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160 / 7739
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14
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(HPO:0004404)
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Abnormality of the nipple |
Frequent [Orphanet]
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54 / 7739
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15
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(HPO:0000921)
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Missing ribs |
Frequent [Orphanet]
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62 / 7739
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16
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(HPO:0000954)
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Single transverse palmar crease |
Frequent [Orphanet]
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162 / 7739
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17
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(HPO:0009623)
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Proximal placement of thumb |
Frequent [Orphanet]
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50 / 7739
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18
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(HPO:0004325)
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Decreased body weight |
Very frequent [Orphanet]
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492 / 7739
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19
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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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20
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(HPO:0001636)
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Tetralogy of Fallot |
Frequent [Orphanet]
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104 / 7739
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21
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(HPO:0001629)
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Ventricular septal defect |
Frequent [Orphanet]
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316 / 7739
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22
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(HPO:0012303)
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Abnormality of the aortic arch |
Frequent [Orphanet]
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57 / 7739
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23
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(HPO:0001252)
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Muscular hypotonia |
Very frequent [Orphanet]
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990 / 7739
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24
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(HPO:0012905)
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Euryblepharon |
Frequent [Orphanet]
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12 / 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 |