Microcephaly-deafness-intellectual disability syndrome
Synonyms: Kawashima-Tsuji syndrome · Microcephaly-hearing loss-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-deafness-intellectual disability syndrome | Kawashima-Tsuji syndrome · Microcephaly-hearing loss-intellectual disability syndrome |
| fr | Syndrome de microcéphalie-surdité-déficience intellectuelle | Syndrome de Kawashima-Tsuji |
| de | Mikrozephalie-Schwerhörigkeit-Intelligenzminderung-Syndrom | Kawashima-Tsuji-Syndrom · Mikrozephalie mit Hörverlust und Intelligenzminderung |
| es | Síndrome de microcefalia-sordera-discapacidad intelectual | Síndrome de microcefalia-hipoacusia-discapacidad intelectual · Síndrome de Kawashima-Tsuji |
| it | Sindrome microcefalia-sordità-disabilità intellettiva | Sindrome di Kawashima-Tsuji · Sindrome microcefalia-perdita dell'udito-disabilità intellettiva |
| nl | Microcefalie - doofheid - intellectuele achterstand-syndroom | Microcefalie - gehoorverlies - intellectuele achterstand-syndroom · Syndroom van Kawashima-Tsuji |
| pt | Síndrome de microcefalia-surdez-perturbação do desenvolvimento intelectual | Síndrome Kawashima-Tsuji |
| pl | Małogłowie - głuchota - niepełnosprawność intelektualna | Zespół Kawashima i Tsuji |
| cs | Syndrom zahrnující mikrocefalii, hluchotu a mentální retardaci | Kawashimaové-Tsujiho syndrom · Kawashima-Tsujiho syndrom |
| uk | Синдром мікроцефалії-глухоти-інтелектуальної недостатності | Синдром Кавашима-Тсуджі · Синдром мікроцефалії-глухоти-інтелектуальної недостатності |
| zh | 小头畸形-耳聋-智力障碍综合征 | 小头畸形-耳聋-智力障碍综合征 |
| tr | Mikrosefali-sağırlık-zihinsel yetersizlik sendromu | Kawashima-Tsuji sendromu · Mikrosefali-işitme kaybı-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156620 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0007991 | E | validated | |
| MeSH | C537326 | E | validated | |
| UMLS | C0796062 | E | validated | |
| GARD | 230 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3608216[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3608216[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000378 | Cupped ear | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000324 | Facial asymmetry | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0002057 | Prominent glabella | |
| HP:0000411 | Protruding ear | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000384 | Preauricular skin tag | |
| HP:0004322 | Short stature | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2533
- This record as JSON: /data/d/2533.json