ORPHA:163649
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Synonyms: Spondyloepiphyseal dysplasia, Nishimura type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome | Spondyloepiphyseal dysplasia, Nishimura type |
| fr | Syndrome de dysplasie spondylo-épiphysaire-craniosynostose-fente palatine-cataracte-déficience intellectuelle | Dysplasie spondylo-épiphysaire, type Nishimura |
| de | Spondyloepiphysäre Dysplasie-Kraniosynostose-Gaumenspalte Katarakt-Intelligenzminderung-Syndrom | Dysplasie, spondyloepiphysäre, Typ Nishimura |
| es | Síndrome de displasia espondiloepifisaria-craneosinostosis-paladar hendido-cataratas-discapacidad intelectual | Displasia espondiloepifisaria tipo Nishimura |
| it | Sindrome displasia spondiloepifisaria-craniosinostosi-palatoschisi-cataratta-disabilità intellettiva | Displasia spondiloepifisaria, tipo Nishimura · Displasia spondiloepifisaria - craniosinostosi - palatoschisi - cataratta - deficit cognitivo |
| nl | Spondylo-epifysaire dysplasie - craniosynostose - gespleten gehemelte - cataract - intellectuele achterstand-syndroom | Spondylo-epifysaire dysplasie, Nishimura-type |
| pt | Síndrome de displasia espondiloepifisária-craniosinostose-fenda palatina-cataratas-perturbação do desenvolvimento intelectual | Displasia espondiloepifisária, tipo Nishimura |
| pl | Dysplazja kręgowo-nasadowa, typ Nishimura | Dysplazja kręgowo-nasadowa - kraniosynostoza - rozszczep podniebienia - zaćma - niepełnosprawność intelektualna |
| cs | Spondyloepifyzární dysplázie, Nishimurův typ | Syndrom zahrnující spondyloepifyzární dysplázii, kraniosystózu, rozštěp patra, kataraktu a mentální retardaci |
| uk | Синдром спондилоепіфізарної дисплазії-краніосиностозу-розщілини піднебіння-катаракти- інтелектуальної недостатності | Спондилоепіфізарна дисплазія, тип Нішімура |
| zh | Nishimura 型脊柱骨骺发育不良 | 脊柱骨骺发育不良-颅缝闭合-腭裂-白内障-智力障碍综合征 |
| tr | Spondiloepifizyal displazi, Nishimura tipi | Spondiloepifizyal displazi-kraniyosinostoz-yarık damak-katarakt-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0011261 | E | validated | |
| UMLS | C4305147 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- 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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 9557884[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9557884[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.
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HPO phenotypes
41 annotations · validated 2017-05-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0003366 | Abnormality of the femoral neck or head region | |
| HP:0002693 | Abnormality of the skull base | |
| HP:0011326 | Anterior plagiocephaly | |
| HP:0000463 | Anteverted nares | |
| HP:0000248 | Brachycephaly | |
| HP:0000518 | Cataract | |
| HP:0002673 | Coxa valga | |
| HP:0006454 | Delayed patellar ossification | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0003180 | Flat acetabular roof | |
| HP:0003071 | Flattened epiphysis | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0011001 | Increased bone mineral density | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000343 | Long philtrum | |
| HP:0000774 | Narrow chest | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0000926 | Platyspondyly | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0001238 | Slender finger | |
| HP:0002942 | Thoracic kyphosis | |
| HP:0000260 | Wide anterior fontanel | |
| HP:0008783 | Wide proximal femoral metaphysis | |
| Frequent (79-30%) | ||
| HP:0011329 | Abnormality of cranial sutures | |
| HP:0002007 | Frontal bossing | |
| HP:0100558 | Hemiatrophy of upper limb | |
| HP:0007894 | Hypopigmentation of the fundus | |
| HP:0000347 | Micrognathia | |
| Occasional (29-5%) | ||
| HP:0009811 | Abnormality of the elbow | |
| HP:0002879 | Anisospondyly | |
| HP:0000175 | Cleft palate | |
| HP:0000218 | High palate | |
| HP:0000568 | Microphthalmia | |
| HP:0000545 | Myopia | |
| HP:0010471 | Oligosacchariduria | |
| HP:0000541 | Retinal detachment | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 9557884[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163649
- This record as JSON: /data/d/163649.json