Microcephaly - deafness - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Kawashima-Tsuji syndrome |
| Number of Symptoms | 22 |
| OrphanetNr: | 2533 |
| OMIM Id: |
156620
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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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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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 Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000232) | Everted lower lip vermilion | 90 / 7739 | ||||
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(HPO:0002057) | Prominent glabella | 8 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000159) | Abnormality of the lip | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000324) | Facial asymmetry | 57 / 7739 | ||||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0000411) | Protruding ear | Very frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0000378) | Cupped ear | 34 / 7739 | ||||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Low-set, cup-shaped ears | 1 / 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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Additional Information:
| Clinical Description OMIM |
Kawashima and Tsuji (1987) reported the cases of a mother and son with microcephaly, mental retardation, and characteristic facies. The subjects were also deaf and had low-set, cup-shaped ears. The facial characteristics were asymmetry, prominent glabella, protruding lower ... |