Isotretinoin-like syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Kawashima syndrome microtia-aortic arch syndrome |
| Number of Symptoms | 27 |
| OrphanetNr: | 2306 |
| OMIM Id: |
243440
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| 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: | 6 cases [Orphanet] |
| Inheritance: |
Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
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 |
Symptom Information:
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(HPO:0011265) | Cleft earlobe | Frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Frequent [Orphanet] | 274 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Very frequent [Orphanet] | 316 / 7739 | |||
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(HPO:0001710) | Conotruncal defect | 3 / 7739 | ||||
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(HPO:0001643) | Patent ductus arteriosus | Frequent [Orphanet] | 228 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000932) | Abnormality of the posterior cranial fossa | 5 / 7739 | ||||
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(HPO:0000348) | High forehead | Frequent [Orphanet] | 157 / 7739 | |||
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(HPO:0000269) | Prominent occiput | Frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0000470) | Short neck | Frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000202) | Oral cleft | Frequent [Orphanet] | 120 / 7739 | |||
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(HPO:0000445) | Wide nose | Frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000372) | Abnormality of the auditory canal | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0000377) | Abnormality of the pinna | 111 / 7739 | ||||
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(HPO:0008544) | Abnormally folded helix | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0009892) | Anotia | 8 / 7739 | ||||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Very frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0012303) | Abnormality of the aortic arch | Frequent [Orphanet] | 57 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(Orphanet:34800) | Aortic arches anomalies | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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