ORPHA:1394
Cerebrofaciothoracic dysplasia
Synonyms: Pascual-Castroviejo syndrome type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebrofaciothoracic dysplasia | Pascual-Castroviejo syndrome type 1 |
| fr | Dysplasie cérébrofaciothoracique | Syndrome de Pascual-Castroviejo type 1 |
| de | Dysplasie, zerebro-fazio-thorakale | Pascuel-Castroviejo-Syndrom Typ 1 |
| es | Displasia cerebro-facio-torácica | Síndrome de Pascual-Castroviejo tipo 1 |
| it | Displasia cerebro-facio-toracica | Sindrome di Pascual Castroviejo, tipo 1 |
| nl | Cerebrofaciothoracale dysplasie | Syndroom van Pascual-Castroviejo type 1 |
| pt | Displasia cerebro-facio-torácica | Síndrome Pascuel-Castroviejo |
| pl | Dysplazja mózgowo-twarzowo-piersiowa | Zespół Pascuala i Castroviejo typu 1 |
| cs | Cerebrofaciotorakální dysplázie | Pascual-Castroviejův syndrom, typ 1 |
| uk | Цереброфаціально-грудна дисплазія | Синдром Паскуаля-Кастровєхо, тип 1 |
| zh | 颅面畸形和智力迟滞、骨骼异常综合征 | Pascual-Castroviejo综合征1型 |
| tr | Serebrofasiyotorasik displazi | Pascual-Castroviejo sendromu tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 213980 | BTNT | validated | |
| OMIM | 616994 | BTNT | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.H | NTBT | index | validated |
| MONDO | 800436 | E | validated | |
| MeSH | C565862 | E | validated | |
| UMLS | C1859252 | E | validated | |
| GARD | 1210 | 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:93454Dysostosis with predominant vertebral and costal involvement
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
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:228407Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMCO1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18188 | ENSG00000143183 | 614123 | 1q24.1 | transmembrane and coiled-coil domains 1 | 24194475[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 24194475[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24194475[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
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000892 | Bifid ribs | |
| HP:0000248 | Brachycephaly | |
| HP:0000289 | Broad philtrum | |
| HP:0002937 | Hemivertebrae | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001249 | Intellectual disability | |
| HP:0011800 | Midface retrusion | |
| HP:0000774 | Narrow chest | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000902 | Rib fusion | |
| HP:0000470 | Short neck | |
| HP:0000574 | Thick eyebrow | |
| HP:0000154 | Wide mouth | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002208 | Coarse hair | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0100790 | Hernia | |
| HP:0002162 | Low posterior hairline | |
| HP:0000256 | Macrocephaly | |
| HP:0001561 | Polyhydramnios | |
| HP:0002650 | Scoliosis | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000912 | Sprengel anomaly | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| HP:0002119 | Ventriculomegaly | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1394
- This record as JSON: /data/d/1394.json