Microcephaly-brachydactyly-kyphoscoliosis syndrome
historical
Synonyms: Viljoen-Kallis-Voges syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-brachydactyly-kyphoscoliosis syndrome | Viljoen-Kallis-Voges syndrome |
| fr | Syndrome de microcéphalie-brachydactylie-déficience intellectuelle | Syndrome de Viljoen-Kallis-Voges |
| de | Mikrozephalie-Brachydaktylie-Kyphoskoliose-Syndrom | Viljoen-Kallis-Voges-Syndrom |
| es | Síndrome de microcefalia-braquidactilia-cifoescoliosis | Síndrome de Viljoen-Kallis-Voges |
| it | Microcefalia - brachidattilia - cifoscoliosi | Sindrome di Viljoen-Kallis-Voges |
| nl | Microcefalie - brachydactylie - kyfoscoliose-syndroom | Syndroom van Viljoen-Kallis-Voges |
| pt | Síndrome de microcefalia-braquidactilia-cifoscoliose | Síndrome Viljoen-Kallis-Voges |
| pl | Małogłowie - brachydaktylia - kifoskolioza | Zespół Viljoena, Kallisa i Vogesa |
| cs | Syndrom zahrnující mikrocefalii, brachydaktylii a kyfoskoliózu | Viljoenův-Kallisův-Vogesův syndrom · Viljoen-Kallis-Vogesův syndrom |
| uk | Синдром мікроцефалії-брахідактилії-кіфосколіозу | Синдром Вілджоена-Калліса-Вогеса |
| zh | 小头-短指（趾）-脊柱后凸侧弯综合征 | Viljoen-Kallis-Voges 综合征 |
| tr | Mikrosefali-brakidaktili-kifoskolyoz sendromu | Viljoen-Kallis-Voges sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018091 | E | validated | |
| MeSH | C536349 | E | validated | |
| UMLS | C2931177 | E | validated | |
| GARD | 5490 | 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 (6):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic 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 | 3 cases | Worldwide | Case(s) | Validated | 1884519[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1884519[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
19 annotations · validated 2019-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003199 | Decreased muscle mass | |
| HP:0000268 | Dolichocephaly | |
| HP:0005469 | Flat occiput | |
| HP:0002705 | High, narrow palate | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0000272 | Malar flattening | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0002362 | Shuffling gait | |
| Frequent (79-30%) | ||
| HP:0003413 | Atlantoaxial abnormality | |
| HP:0010055 | Broad hallux | |
| HP:0011304 | Broad thumb | |
| HP:0000518 | Cataract | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0005620 | Hypermobility of interphalangeal joints | |
| HP:0012811 | Wide nasal ridge | |
Annotation source: 1884519[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3433
- This record as JSON: /data/d/3433.json