ORPHA:1270
Bowen-Conradi syndrome
Synonyms: Bowen syndrome, Hutterite type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bowen-Conradi syndrome | Bowen syndrome, Hutterite type |
| fr | Syndrome de Bowen-Conradi | Syndrome de Bowen type huttérite |
| de | Bowen-Conradi-Syndrom | Bowen-Syndrom, Hutteriten-Typ |
| es | Síndrome de Bowen-Conradi | Síndrome de Bowen tipo Huterita |
| it | Sindrome di Bowen-Conradi | Sindrome di Bowen, tipo hutterita |
| nl | Syndroom van Bowen-Conradi | Syndroom van Bowen, Hutteriet-type |
| pt | Síndrome Bowen-Conradi | Síndrome Bowen tipo Hutterite |
| pl | Zespół Bowena i Conradiego | Zespół Bowena, typ Hutterite |
| cs | Bowenův-Conradiho syndrom | Bowenův syndrom, hutteritský typ · Bowen-Conradiho syndrom |
| uk | Синдром Боуена-Конраді | Синдром Боуена, гуттеритний тип |
| zh | Bowen-Conradi综合征 | Bowen综合征，Hutterite型 |
| tr | Bowen-Conradi sendromu | Bowen sendromu, Hutterite tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211180 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD20.2 | NTBT | index | validated |
| MONDO | 0008879 | E | validated | |
| MeSH | C537081 | E | validated | |
| UMLS | C1859405 | E | validated | |
| GARD | 5950 | 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 (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:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EMG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:16912 | ENSG00000126749 | 611531 | 12p13.31 | EMG1 N1-specific pseudouridine methyltransferase | 19463982[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | >1 / 1000 | 281 / 100 000 | Specific population | Value and class | Validated | 12838567[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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001522 | Death in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001387 | Joint stiffness | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000448 | Prominent nose | |
| HP:0011344 | Severe global developmental delay | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0004322 | Short stature | |
| HP:0000340 | Sloping forehead | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0001838 | Rocker bottom foot | |
| HP:0008846 | Severe intrauterine growth retardation | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0000202 | Orofacial cleft | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1270
- This record as JSON: /data/d/1270.json