ORPHA:2319
Juberg-Hayward syndrome
Synonyms: Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juberg-Hayward syndrome | Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome |
| fr | Syndrome de Juberg-Hayward | Syndrome de fente labiopalatine-anomalie des pouces-microcéphalie · Syndrome oro-cranio-digital |
| de | Juberg-Hayward-Syndrom | Lippenkiefergaumenspalte - Daumenanomalien - Mikrozephalie · Oro-kranio-digitales Syndrom |
| es | Síndrome de Juberg-Hayward | Fisura labiopalatina-anomalía de los pulgares-microcefalia · Síndrome oro-cráneo-digital |
| it | Sindrome di Juberg-Hayward | Labiopalatoschisi - anomalia del pollice - microcefalia · Schisi labiopalatina - anomalia del pollice - microcefalia · Sindrome oro-cranio-digitale |
| nl | Syndroom van Juberg-Hayward | Gespleten lip/gehemelte - abnormale duimen - microcefalie-syndroom · Orocraniodigitaal syndroom |
| pt | Síndrome Juberg-Hayward | Síndrome de fenda lábio-palatina-anomalia dos polegares-microcefalia · Síndrome oro-cranio-digital |
| pl | Zespół Juberga i Haywarda | Rozszczep wargi/podniebienia - nieprawidłowe kciuki - małogłowie · Zespół ustno-czaszkowo-palcowy |
| cs | Jubergův-Haywardův syndrom | Orokraniodigitální syndrom · Syndrom zahrnující rozštěp rtu a patra, abnormální palce a mikrocefalii · Juberg-Haywardův syndrom |
| uk | Синдром Юберга-Хейворда | Розщілина губи/піднебіння - аномалії великих пальців - синдром мікроцефалії · Орокраніодигітальний синдром |
| zh | Juberg-Hayward综合征 | 唇腭裂-拇指异常-小头畸形综合征 |
| tr | Juberg-Hayward sendromu | Orokraniyodijital sendromu · Yarık dudak / damak-anormal başparmak-mikrosefali sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 216100 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008992 | E | validated | |
| MeSH | C537690 | E | validated | |
| UMLS | C0796099 | E | validated | |
| GARD | 3060 | 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: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 - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ESCO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:27230 | ENSG00000171320 | 609353 | 8p21.1 | establishment of sister chromatid cohesion N-acetyltransferase 2 | 32977150[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 22811276[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22811276[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
26 annotations · validated 2017-11-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0003510 | Severe short stature | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0001765 | Hammertoe | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000316 | Hypertelorism | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0000202 | Orofacial cleft | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0002650 | Scoliosis | |
| HP:0009778 | Short thumb | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0001545 | Anteriorly placed anus | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000508 | Ptosis | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2319
- This record as JSON: /data/d/2319.json