ORPHA:97297
Bohring-Opitz syndrome
Synonyms: BOS syndrome · Bohring syndrome · C-like syndrome · Oberklaid-Danks syndrome · Opitz trigonocephaly-like syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bohring-Opitz syndrome | BOS syndrome · Bohring syndrome · C-like syndrome · Oberklaid-Danks syndrome · Opitz trigonocephaly-like syndrome |
| fr | Syndrome de Bohring-Opitz | Syndrome BOS · Syndrome C-like · Syndrome Oberklaid-Danks · Syndrome d'Opitz-like-trigonocéphalie · Syndrome de Bohring |
| de | Bohring-Opitz-Syndrom | BOS-Syndrom · Bohring-Syndrom · C-ähnliches-Syndrom · Oberklaid-Danks-Syndrom · Opitz Trigonozephalus-ähnliches Syndrom |
| es | Síndrome de Bohring-Opitz | Síndrome BOS · Síndrome de Bohring · Síndrome de Oberklaid-Danks · Síndrome de trigonocefalia tipo Opitz · Síndrome tipo C · Síndrome tipo trigonocefalia de Opitz |
| it | Sindrome di Bohring-Opitz | Sindrome BOS · Sindrome C-simile · Sindrome di Bohring · Sindrome di Oberklaid-Danks · Sindrome simil-trigonocefalica di Opitz |
| nl | Syndroom van Bohring-Opitz | BOS-syndroom · C-achtig syndroom · Opitz trigonocefalie-achtig syndroom · Syndroom van Bohring · Syndroom van Oberklaid-Danks |
| pt | Síndrome C-like | |
| pl | Zespół Bohringa i Opitza | Zespół Bohringa · Zespół BOS · Zespół Oberklaida i Danksa · Zespół podobny do C · Zespół podobny do trigonocefalii Opitza |
| cs | Bohringův-Opitzův syndrom | BOS syndrom · C-like syndrom · Bohringův syndrom · Oberklaidův-Danksův syndrom · Opitzův syndrom podobný trigonocefalii · Bohring-Opitzův syndrom · Oberklaid-Danksův syndrom |
| uk | Синдром Борінга-Опітца | Синдром Борінга · BOS-синдром · С-подібний синдром · Синдром Оберклайда-Данкса · Тригоноцефалоподібний синдром Опітца |
| zh | Bohring-Opitz综合征 | Opitz三角头畸形样综合征 |
| tr | Bohring-Opitz sendromu | BOS sendromu · C-benzeri sendrom · Bohring sendromu · Oberklaid-Danks sendromu · Opitz trigonosefali-benzeri sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605039 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011510 | E | validated | |
| MeSH | C537419 | E | validated | |
| UMLS | C0796232 | E | validated | |
| GARD | 10140 | 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:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASXL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18318 | ENSG00000171456 | 612990 | 20q11.21 | ASXL transcriptional regulator 1 | 21706002[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 46 cases | Worldwide | Case(s) | Validated | 29446906[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
65 annotations · validated 2021-04-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001052 | Nevus flammeus | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002104 | Apnea | |
| HP:0008936 | Axial hypotonia | |
| HP:0001662 | Bradycardia | |
| HP:0000589 | Coloboma | |
| HP:0002803 | Congenital contracture | |
| HP:0000297 | Facial hypotonia | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0006471 | Fixed elbow flexion | |
| HP:0012537 | Food intolerance | |
| HP:0000293 | Full cheeks | |
| HP:0040082 | Happy demeanor | |
| HP:0000998 | Hypertrichosis | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002540 | Inability to walk | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0000252 | Microcephaly | |
| HP:0010733 | Naevus flammeus of the eyelid | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000648 | Optic atrophy | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000520 | Proptosis | |
| HP:0002719 | Recurrent infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001105 | Retinal atrophy | |
| HP:0006863 | Severe expressive language delay | |
| HP:0001525 | Severe failure to thrive | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0000664 | Synophrys | |
| HP:0000243 | Trigonocephaly | |
| HP:0003049 | Ulnar deviation of the wrist | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0012453 | Bilateral wrist flexion contracture | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0012448 | Delayed myelination | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0011003 | High myopia | |
| HP:0000316 | Hypertelorism | |
| HP:0001373 | Joint dislocation | |
| HP:0006070 | Metacarpophalangeal joint contracture | |
| HP:0000347 | Micrognathia | |
| HP:0000767 | Pectus excavatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0010291 | Prominent palatine ridges | |
| HP:0000278 | Retrognathia | |
| HP:0001250 | Seizure | |
| HP:0000016 | Urinary retention | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000431 | Wide nasal bridge | |
| Very rare (<4-1%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001734 | Annular pancreas | |
| HP:0001640 | Cardiomegaly | |
| HP:0001081 | Cholelithiasis | |
| HP:0002885 | Medulloblastoma | |
| HP:0002667 | Nephroblastoma | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 29446906[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97297
- This record as JSON: /data/d/97297.json