Aortic arch anomaly - peculiar facies - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 30 |
| OrphanetNr: | 1110 |
| OMIM Id: |
107500
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| ICD-10: |
Q87.8 |
| UMLs: |
C1862682 |
| MeSH: |
C537785 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | Occasional [Orphanet] | 179 / 7739 | |||
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(HPO:0000670) | Carious teeth | Very frequent [Orphanet] | 145 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000444) | Convex nasal ridge | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000325) | Triangular face | Very frequent [Orphanet] | 91 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | Very frequent [Orphanet] | 121 / 7739 | |||
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(HPO:0000272) | Malar flattening | Occasional [Orphanet] | 277 / 7739 | |||
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(HPO:0002714) | Downturned corners of mouth | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000337) | Broad forehead | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Occasional [Orphanet] | 212 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
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(HPO:0002970) | Genu varum | Occasional [Orphanet] | 60 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Occasional [Orphanet] | 358 / 7739 | |||
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(HPO:0012020) | Right aortic arch | 9 / 7739 | ||||
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(HPO:0002627) | Right aortic arch with mirror image branching | 5 / 7739 | ||||
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(HPO:0100026) | Arteriovenous malformation | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0002623) | Overriding aorta | Very frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0012303) | Abnormality of the aortic arch | Very frequent [Orphanet] | 57 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Occasional [Orphanet] | 990 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Peculiar facies | 7 / 7739 | ||||
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(OMIM) | Esophageal indentation on barium swallow | 1 / 7739 | ||||
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(HPO:0400004) | Long ear | Very frequent [Orphanet] | 94 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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