ORPHA:2745
Opitz GBBB syndrome
Synonyms: Hypertelorism-hypospadias syndrome · Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome · Opitz BBB/G syndrome · Opitz BBBG syndrome · Opitz G/BBB syndrome · Opitz-Frias syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Opitz GBBB syndrome | Hypertelorism-hypospadias syndrome · Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome · Opitz BBB/G syndrome · Opitz BBBG syndrome · Opitz G/BBB syndrome · Opitz-Frias syndrome |
| fr | Syndrome d'Opitz GBBB | Syndrome d'Opitz BBBG · Syndrome d'Opitz G/BBB · Syndrome d'Opitz-Frias · Syndrome d'hypertélorisme-anomalies de l'oesophage-hypospadias · Syndrome d'hypertélorisme-hypospadias · Syndrome d'hypospadias-dysphagie · Syndrome d'Opitz BBB/G |
| de | Opitz G/BBB-Syndrom | Hypertelorismus-Hypospadie-Syndrom · Hypertelorismus-Ösophagusanomalie-Hypospadie-Syndrom · Hypospadie-Dyspaghie-Syndrom · Opitz BBB/G-Syndrom · Opitz-BBBG-Syndrom · Opitz-Frias-Syndrom |
| es | Síndrome de Opitz GBBB | Síndrome de Opitz BBB/G · Síndrome de Opitz BBBG · Síndrome de Opitz G/BBB · Síndrome de Opitz-Frias · Síndrome de hipertelorismo-anomalías esofágicas-hipospadias · Síndrome de hipertelorismo-hipospadias · Síndrome de hipospadias-disfagia |
| it | Sindrome di Opitz GBBB | Sindrome di Opitz BBB/G · Sindrome di Opitz BBBG · Sindrome di Opitz G/BBB · Sindrome di Opitz-Frias · Sindrome ipertelorismo-anomalia esofagea-ipospadia · Sindrome ipospadia-disfagia · Sindrome ipospadia-ipertelorismo |
| nl | Opitz GBBB-syndroom | Hypertelorisme - hypospadie-syndroom · Hypertelorisme - oesofageale anomalie - hypospadie-syndroom · Hypospadie - dysfagie-syndroom · Opitz BBB/G-syndroom · Opitz BBBG-syndroom · Opitz G/BBB-syndroom · Syndroom van Opitz-Frias |
| pt | Síndrome Opitz GBBB | Síidrome de hipospadias-hipertelorismo-anomalias esofágicas · Síndrome Opitz BBBG · Síndrome Opitz-Frias · Síndrome de hipospadias-disfagia |
| pl | Zespół Opitza GBBB | Zespół hiperteloryzm-nieprawidłowość przełyku-spodziectwo · Zespół Opitza · Zespół spodziectwo-dysfagia · Zespół spodziectwo-hiperteloryzm |
| cs | Opitzův G/BBB syndrom | Syndrom zahrnující hypertelorismus, jícnovou abnormalitu a hypospadii · Syndrom zahrnující hypospadii a dysfagii · Syndrom zahrnující hypospadii a hypertelorismus · Opitzův syndrom · Opitzův-Friasův syndrom · Opitz-Friasův syndrom |
| uk | Синдром Опітца GBBB | Синдром гіпертелоризму-гіпоспадії · Синдром гіпертелоризму - аномалії стравоходу - гіпоспадії · Синдром гіпоспадії-дисфагії · Синдром Опітца BBB/G · Синдром Опітца BBBG · Синдром Опітца G/BBB · Синдром Опітца-Фріаса |
| zh | Opitz G/BBB综合征 | 眼距过宽-食管畸形-尿道下裂综合征 |
| tr | Opitz G / BBB sendromu | Opitz sendromu · Opitz-Frias sendromu · Hipospadiyas-disfaji sendromu · Hipospadiyas-hipertelorizm sendromu · Hipertelorizm-özofageal anormallik-hipospadiyas sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300000 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0017138 | E | validated | |
| UMLS | C2936904 | E | validated | |
| GARD | 193 | 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 (6):
- 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:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:108995Syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases - ORPHA:98575Syndromic telecanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:306588OBSOLETE: Autosomal dominant Opitz G/BBB syndrome referred to · inactive
- ORPHA:306597OBSOLETE: X-linked Opitz G/BBB syndrome referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MID1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7095 | ENSG00000101871 | 300552 | Xp22.2 | midline 1 | 15558842[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | EXPERT |
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
75 annotations · validated 2021-04-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0011220 | Prominent forehead | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0000463 | Anteverted nares | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0008751 | Laryngeal cleft | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000508 | Ptosis | |
| HP:0000736 | Short attention span | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0000506 | Telecanthus | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000349 | Widow's peak | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002023 | Anal atresia | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | |
| HP:0001631 | Atrial septal defect | |
| HP:0000729 | Autistic behavior | |
| HP:0000048 | Bifid scrotum | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002015 | Dysphagia | |
| HP:0004397 | Ectopic anus | |
| HP:0100879 | Enlarged ovaries | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000023 | Inguinal hernia | |
| HP:0000239 | Large fontanelles | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001539 | Omphalocele | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0005301 | Persistent left superior vena cava | |
| HP:0002465 | Poor speech | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004467 | Preauricular pit | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0000049 | Shawl scrotum | |
| HP:0010307 | Stridor | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0001537 | Umbilical hernia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000076 | Vesicoureteral reflux | |
| Very rare (<4-1%) | ||
| HP:0000539 | Abnormality of refraction | |
| HP:0010296 | Ankyloglossia | |
| HP:0000813 | Bicornuate uterus | |
| HP:0000668 | Hypodontia | |
| HP:0000695 | Natal tooth | |
| HP:0000486 | Strabismus | |
| HP:0010518 | Thyroglossal cyst | |
| HP:0002779 | Tracheomalacia | |
| HP:0003422 | Vertebral segmentation defect | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301502[PMID]_30472488[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2745
- This record as JSON: /data/d/2745.json