Thomas syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Potter sequence - cleft lip/palate - cardiopathy |
| Number of Symptoms | 11 |
| OrphanetNr: | 3316 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| UMLs: |
C2931225 |
| MeSH: |
C536514 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Rare syndrome with cardiac malformations -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
|
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(HPO:0000107) | Renal cyst | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Very frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000202) | Oral cleft | Very frequent [Orphanet] | 120 / 7739 | |||
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(HPO:0000268) | Dolichocephaly | Frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000348) | High forehead | Frequent [Orphanet] | 157 / 7739 | |||
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(HPO:0001562) | Oligohydramnios | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0004383) | Hypoplastic left heart | Frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Very frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0001522) | Death in infancy | Very frequent [Orphanet] | 275 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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