ORPHA:2779
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Synonyms: Whyte-Murphy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Neonatal
- Status
- active
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteopathia striata-pigmentary dermopathy-white forelock syndrome | Whyte-Murphy syndrome |
| fr | Syndrome d'ostéopathie striée-hyperpigmentation-mèche blanche | Syndrome de Whyte-Murphy |
| de | Osteopathia striata-Hyperpigmentierung-weiße Stirnlocke-Syndrom | White-Murphy-Syndrom |
| es | Síndrome de osteopatía estriada-hiperpigmentación-mechón blanco | Síndrome de White-Murphy |
| it | Osteopatia striata - iperpigmentazione - ciocche di capelli bianchi | Sindrome di Whyte-Murphy |
| nl | Osteopathia striata - pigmentaire dermopathie - witte voorhoofdslok-syndroom | Syndroom van Whyte-Murphy |
| pt | Síndrome de osteopatia estriada-dermopatia pigmentar-madeixa branca | Síndrome Whyte-Murphy |
| pl | Osteopathia striata - dermopatia barwnikowa - kępka białych włosów | Zespół Whyte i Murphy'ego |
| cs | Syndrom zahrnující osteopathia striata, pigmentární dermopatii a vitiligo nad čelem | Whyteův-Murphyho syndrom · Whyte-Murphyho syndrom |
| uk | Синдром смугастої остеопатії-пігментної дермопатії-білого чуба | Синдром Уайта-Мерфі |
| zh | 条纹状骨病- 色素性皮肤病-白色额发综合征 | Whyte-Murphy综合征 |
| tr | Osteopati striata-pigmenter dermopati-beyaz ön ayak sendromu | Whyte-Murphy sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0017197 | E | validated | |
| MeSH | C536054 | E | validated | |
| UMLS | C2931096 | E | validated | |
| GARD | 5562 | 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:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
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 | 3 cases | Worldwide | Case(s) | Validated | 7405956[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7405956[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0007412 | Macular hyperpigmented dermopathy | |
| HP:0010740 | Osteopathia striata | |
| HP:0100670 | Rough bone trabeculation | |
| HP:0002211 | White forelock | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2779
- This record as JSON: /data/d/2779.json