Cerebrofacioarticular syndrome
Synonyms: Van Maldergem syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebrofacioarticular syndrome | Van Maldergem syndrome |
| fr | Syndrome cérébrofacioarticulaire | Syndrome de Van Maldergem |
| de | Zerebro-fazio-artikuläres Syndrom | Van Maldergem-Syndrom |
| es | Síndrome cerebro-facio-articular | Síndrome de Van Maldergem |
| it | Sindrome cerebro-facio-articolare | Sindrome di Van Maldergem |
| nl | Cerebrofacioarticulair syndroom | Syndroom van Van Maldergem |
| pt | Síndrome cerebro-facio-articular | Síndrome de Van Maldergem |
| pl | Zespół mózgowo-twarzowo-stawowy | Zespół Van Maldergema |
| cs | Cerebro-facio-artikulární syndrom | Van Maldergemův syndrom |
| uk | Цереброфаціоартікулярний синдром | Синдром Ван Мальдергема |
| zh | 脑筋膜关节综合征 | Van Maldergem综合征 |
| tr | Serebrofasiyoartiküler sendrom | Van Maldergem sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601390 | E | validated | |
| OMIM | 615546 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017813 | E | validated | |
| MeSH | C536530 | E | validated | |
| UMLS | C1832390 | E | validated | |
| GARD | 5456 | 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 (2):
- 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
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCHS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13681 | ENSG00000166341 | 603057 | 11p15.4 | dachsous cadherin-related 1 | 24056717[PMID] |
| FAT4 | Disease-causing germline mutation(s) in | Assessed | HGNC:23109 | ENSG00000196159 | 612411 | 4q28.1 | FAT atypical cadherin 4 | 24056717[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 22473091[PMID]_24056717[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
44 annotations · validated 2019-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012385 | Camptodactyly | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0008551 | Microtia | |
| Frequent (79-30%) | ||
| HP:0002778 | Abnormal trachea morphology | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000239 | Large fontanelles | |
| HP:0000347 | Micrognathia | |
| HP:0000938 | Osteopenia | |
| HP:0000089 | Renal hypoplasia | |
| HP:0001159 | Syndactyly | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0008197 | Absence of pubertal development | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002025 | Anal stenosis | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0001251 | Ataxia | |
| HP:0200138 | Bilateral choanal atresia/stenosis | |
| HP:0000581 | Blepharophimosis | |
| HP:0002825 | Caudal appendage | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0000286 | Epicanthus | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000047 | Hypospadias | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0040079 | Irregular dentition | |
| HP:0001004 | Lymphedema | |
| HP:0000252 | Microcephaly | |
| HP:0000160 | Narrow mouth | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0100716 | Self-injurious behavior | |
| HP:0004322 | Short stature | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002779 | Tracheomalacia | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29681106[PMID]_22473091[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314679
- This record as JSON: /data/d/314679.json