Feingold syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
MMT ODED syndrome MODED syndrome Microcephaly - intellectual deficit - tracheoesophageal fistula Oculo-digito-esophageal-duodenal syndrome Microcephaly - oculo-digito-esophageal-duodenal syndrome Brunner-Winter syndrome Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum |
Number of Symptoms | 54 |
OrphanetNr: | 1305 |
OMIM Id: |
164280
614326 |
ICD-10: |
Q87.8 |
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:
Prevalence: | < 50 cases [Orphanet] |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare genetic disease Genetic syndromic esophageal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit -Rare developmental defect during embryogenesis Nonsyndromic respiratory or mediastinal malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare surgical thoracic disease Syndrome with brachydactyly -Rare bone disease -Rare developmental defect during embryogenesis Syndromic esophageal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic gastroduodenal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0005280) | Depressed nasal bridge | Frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000325) | Triangular face | 91 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | Frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000324) | Facial asymmetry | 57 / 7739 | ||||
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(HPO:0012471) | Thick vermilion border | 115 / 7739 | ||||
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(HPO:0000286) | Epicanthus | 371 / 7739 | ||||
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(HPO:0000269) | Prominent occiput | 43 / 7739 | ||||
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0000437) | Depressed nasal tip | 17 / 7739 | ||||
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(HPO:0000232) | Everted lower lip vermilion | 90 / 7739 | ||||
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(HPO:0000202) | Oral cleft | Occasional [Orphanet] | 120 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000237) | Small anterior fontanelle | 10 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000582) | Upslanted palpebral fissure | 185 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0000356) | Abnormality of the outer ear | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0001605) | Vocal cord paralysis | 13 / 7739 | ||||
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(HPO:0001328) | Specific learning disability | 114 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0001831) | Short toe | 52 / 7739 | ||||
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(HPO:0004209) | Clinodactyly of the 5th finger | Very frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0009568) | Aplasia/Hypoplasia of the middle phalanx of the 2nd finger | 4 / 7739 | ||||
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(HPO:0001770) | Toe syndactyly | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0001822) | Hallux valgus | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0009466) | Radial deviation of finger | Very frequent [Orphanet] | 101 / 7739 | |||
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(HPO:0009161) | Aplasia/Hypoplasia of the middle phalanx of the 5th finger | 4 / 7739 | ||||
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(HPO:0004691) | 2-3 toe syndactyly | 56% [HPO:probinson] | 50 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Occasional [Orphanet] | 172 / 7739 | |||
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(HPO:0004692) | 4-5 toe syndactyly | 86% [HPO:probinson] | 6 / 7739 | |||
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(HPO:0001558) | Decreased fetal movement | 74 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | 191 / 7739 | ||||
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(HPO:0001743) | Abnormality of the spleen | Occasional [Orphanet] | 37 / 7739 | |||
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(HPO:0001747) | Accessory spleen | 8 / 7739 | ||||
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(HPO:0001746) | Asplenia | 19 / 7739 | ||||
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(HPO:0002032) | Esophageal atresia | 19 / 7739 | ||||
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(HPO:0002247) | Duodenal atresia | 13 / 7739 | ||||
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(HPO:0002575) | Tracheoesophageal fistula | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0100867) | Duodenal stenosis | Occasional [Orphanet] | 29 / 7739 | |||
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(HPO:0001748) | Polysplenia | 14 / 7739 | ||||
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(HPO:0001734) | Annular pancreas | Occasional [Orphanet] | 10 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Occasional [Orphanet] | 228 / 7739 | |||
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(HPO:0003220) | Abnormality of chromosome stability | Occasional [Orphanet] | 98 / 7739 | |||
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(HPO:0012745) | Short palpebral fissure | 47 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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