ORPHA:1521
Craniofrontonasal dysplasia-Poland anomaly syndrome
historical
Synonyms: Webster-Deming syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
A rare frontonasal dysplasia characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. There have been no further descriptions in the literature since 1994.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniofrontonasal dysplasia-Poland anomaly syndrome | Webster-Deming syndrome |
| fr | Syndrome de dysplasie cranio-fronto-nasale-anomalie de Poland | Syndrome de Webster-Deming |
| de | Kraniofrononasale Dysplasie-Poland-Anomalie-Syndrom | |
| es | Síndrome de displasia craneofrontonasal-anomalía de Poland | Síndrome de Webster-Deming |
| it | Displasia cranio-fronto-nasale - anomalia di Poland | Sindrome di Webster-Deming |
| nl | Craniofrontonasale dysplasie - Poland-anomalie - syndroom | Syndroom van Webster-Deming |
| pt | Síndrome de displasia cranio-fronto-nasal-anomalia de Poland | Síndrome Webster-Deming |
| pl | Dysplazja czaszkowo-czołowo-nosowa - anomalia Polanda | Zespół Webstera i Deminga |
| cs | Syndrom zahrnující kraniofrontonazální dysplázii a Polandovu anomálii | Websterův-Demingův syndrom · Webster-Demingův syndrom |
| uk | Краніофронтоназальна дисплазія - синдром аномалії Поланда | Синдром Вебстера-Демінга |
| zh | 颅额鼻发育不良-波兰异常综合征 | Webster-Deming综合征 |
| tr | Kraniofrontonazal displazi-Polonya anomali sendromu | Webster-Deming sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015464 | E | validated | |
| UMLS | C4303859 | 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:250Frontonasal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:180193Syndromic breast hypoplasia/aplasia
rare gynecological and obstetric diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2225532[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2225532[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 2018-08-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009116 | Aplasia/Hypoplasia involving bones of the skull | |
| HP:0000455 | Broad nasal tip | |
| HP:0001363 | Craniosynostosis | |
| HP:0000316 | Hypertelorism | |
| HP:0004112 | Midline nasal groove | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0012243 | Abnormal reproductive system morphology | |
| HP:0001464 | Aplasia/Hypoplasia involving the shoulder musculature | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0009930 | Asymmetry of the nares | |
| HP:0000136 | Bifid uterus | |
| HP:0001540 | Diastasis recti | |
| HP:0000218 | High palate | |
| HP:0002162 | Low posterior hairline | |
| HP:0001357 | Plagiocephaly | |
| HP:0000200 | Short lingual frenulum | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000486 | Strabismus | |
| HP:0002558 | Supernumerary nipple | |
| HP:0001159 | Syndactyly | |
| HP:0006008 | Unilateral brachydactyly | |
| HP:0011959 | Unilateral hypoplasia of pectoralis major muscle | |
| HP:0030867 | Vertical orbital dystopia | |
| HP:0000465 | Webbed neck | |
| HP:0000154 | Wide mouth | |
Annotation source: 9240748[PMID]_7747768[PMID]_2225532[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1521
- This record as JSON: /data/d/1521.json