ORPHA:363444
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Synonyms: BBIS · Beaulieu-Boycott-Innes syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | BBIS · Beaulieu-Boycott-Innes syndrome |
| fr | Syndrome de retard de développement-microcéphalie-dysmorphie faciale associé à THOC6 | BBIS · Syndrome de Beaulieu-Boycott-Innes |
| de | THOC6-assoziierte Entwicklungsverzögerung mit Mikrozephalie und Gesichtsdysmorphien | BBIS · Beaulieu-Boycott-Innes-Syndrom |
| es | Síndrome de retraso del desarrollo-microcefalia-dismorfia facial asociado al gen THOC6 | Síndrome de Beaulieu-Boycott-Innes |
| it | Sindrome da ritardo dello sviluppo, microcefalia e dismorfismi facciali correlata a THOC6 | |
| nl | THOC6-gerelateerd ontwikkelingsachterstand - microcefalie - faciale dysmorfie-syndroom | BBIS · Syndroom van Beaulieu-Boycott-Innes |
| pt | Síndrome de perturbação do desenvolvimento-microcefalia-dismorfia facial THOC6-relacionada | |
| pl | Zespół opóźnienia rozwoju zależnego od THOC6, małogłowia i dysmorfii twarzy | BBIS · Zespół Beaulieu, Boycotta, Innesa |
| cs | Syndrom zahrnující opoždění vývoje, mikrocefalii a faciální dysmorfismus, typ Hutterite | = en |
| uk | Синдром затримки розвитку-мікроцефалії-лицьового дисморфізму, повязаний з THOC6 | BBIS · Синдром Больє-Бойкотта-Іннеса |
| zh | THOC6基因相关发育迟缓-小头-面部畸形综合征 | BBIS |
| tr | THOC6-ilişkili gelişme geriliği-mikrosefali-yüz dismorfizm sendromu | Beaulieu-Boycott-Innes sendromu · BBIS |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613680 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0013362 | E | validated | |
| UMLS | C3150939 | 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 (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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| THOC6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28369 | ENSG00000131652 | 615403 | 16p13.3 | THO complex subunit 6 | 23621916[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 23621916[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.
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HPO phenotypes
44 annotations · validated 2019-11-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000348 | High forehead | |
| HP:0003189 | Long nose | |
| HP:0009765 | Low hanging columella | |
| HP:0040196 | Mild microcephaly | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000670 | Carious teeth | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000278 | Retrognathia | |
| HP:0000319 | Smooth philtrum | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0002023 | Anal atresia | |
| HP:0001631 | Atrial septal defect | |
| HP:0000337 | Broad forehead | |
| HP:0012385 | Camptodactyly | |
| HP:0000689 | Dental malocclusion | |
| HP:0030127 | Endometriosis | |
| HP:0000365 | Hearing impairment | |
| HP:0009890 | High anterior hairline | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000047 | Hypospadias | |
| HP:0012382 | Left-to-right shunt | |
| HP:0000054 | Micropenis | |
| HP:0011623 | Muscular ventricular septal defect | |
| HP:0001845 | Overlapping toe | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0011682 | Perimembranous ventricular septal defect | |
| HP:0000307 | Pointed chin | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0001328 | Specific learning disability | |
| HP:0000215 | Thick upper lip vermilion | |
| HP:0010282 | Thin lower lip vermilion | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000220 | Velopharyngeal insufficiency | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 30476144[PMID]_27102954[PMID]_26739162[PMID]_20503307[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363444
- This record as JSON: /data/d/363444.json