Oculoauriculovertebral spectrum with radial defects
Synonyms: Hemifacial microsomia-radial defects syndrome · Moeschler-Clarren syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculoauriculovertebral spectrum with radial defects | Hemifacial microsomia-radial defects syndrome · Moeschler-Clarren syndrome |
| fr | Spectre oculo-auriculo-vertébral avec anomalies radiales | Syndrome de Moeschler-Clarren · Syndrome de microsomie hémifaciale-anomalies radiales |
| de | Okulo-aurikulo-vertebrales Spektrum mit radialen Defekten | Moeschler-Claren-Syndrom |
| es | Espectro oculoauriculovertebral con anomalias radiales | Microsomia hemifacial-defectos radiales · Síndrome de Moeschler-Clarren |
| it | Spettro oculo-auricolo-vertebrale con anomalie radiali | Microsomia emifacciale - anomalie radiali · Sindrome di Moeschler-Clarren |
| nl | Oculo-auriculo-vertebraal spectrum met radiale defecten | Hemifaciale microsomie - radiale defecten · Moeschler-Clarrensyndroom |
| pt | Espectro clínico oculo-auriculo-vertebral com anomalias radiais | Microssomia hemifacial-anomalias radiais · Síndrome Moeschler-Clarren |
| pl | Spektrum oczno-uszno-kręgowe z defektem kości promieniowej | Połowicza mikrosomia twarzy - wady kości promieniowej · Zespół Moeschlera i Clarrena |
| cs | Okuloaurikulovertebrální spektrum s radiálním defektem (defektem střední čáry) | Syndrom zahrnující hemifaciální mikrozomii a radiální defekty · Moeschlerův-Clarrenův syndrom · Moeschler-Clarrenův syndrom |
| uk | Окулоаурикуловертебральний спектр з радіальними дефектами | Синдром геміфаціальної мікросомії-радіальних дефектів · Синдром Мешлера-Кларрена |
| zh | 眼耳椎骨异常伴桡骨缺陷 | 半侧颜面短小畸形-桡骨缺损综合征 |
| tr | Radyal defektli oküloaurikülovertebral spektrum | Moeschler-Clarren sendromu · Hemifasiyal mikrozomi-radyal defekt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 141400 | E | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.16 | NTBT | index | validated |
| MONDO | 0007712 | E | validated | |
| UMLS | C0220681 | E | validated | |
| GARD | 3653 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:93453Dysostosis with predominant craniofacial involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 17290277[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 17290277[PMID]_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.
HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000359 | Abnormality of the inner ear | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0000324 | Facial asymmetry | |
| HP:0006511 | Laryngeal stridor | |
| HP:0008551 | Microtia | |
| HP:0003778 | Short mandibular rami | |
| Frequent (79-30%) | ||
| HP:0004452 | Abnormality of the middle ear ossicles | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0100543 | Cognitive impairment | |
| HP:0008706 | Distal urethral duplication | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0000202 | Orofacial cleft | |
| HP:0004467 | Preauricular pit | |
| HP:0000384 | Preauricular skin tag | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0000078 | Abnormality of the genital system | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0004397 | Ectopic anus | |
| HP:0009800 | Maternal diabetes | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0000154 | Wide mouth | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2549
- This record as JSON: /data/d/2549.json