White forelock with malformations
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | White forelock with malformations | |
| fr | Syndrome de mèches blanches-anomalies multiples | |
| de | Weiße Stirnlocke mit multiplen Fehlbildungen | |
| es | Mechón blanco con malformaciones | |
| it | Ciocche di capelli bianchi - malformazioni | |
| nl | Witte voorhoofdslok met misvormingen | |
| pt | Madeixa branca com malformações | |
| pl | Biała grzywka z wadami wrodzonymi | |
| cs | Bílý pramen vlasů nad čelem s malformacemi | |
| uk | Білий чуб з вадами розвитку | |
| zh | 白色额发伴畸形 | |
| tr | Malformasyonların eşlik ettiği beyaz perçem |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277740 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0010199 | E | validated | |
| MeSH | C536700 | E | validated | |
| UMLS | C1848463 | E | validated | |
| GARD | 10081 | 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 (4):
- 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:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
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 | 2 cases | Worldwide | Case(s) | Validated | 7398117[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7398117[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.
HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0001631 | Atrial septal defect | |
| HP:0000592 | Blue sclerae | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002002 | Deep philtrum | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000268 | Dolichocephaly | |
| HP:0000286 | Epicanthus | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002211 | White forelock | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0000545 | Myopia | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000912 | Sprengel anomaly | |
| HP:0000486 | Strabismus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2475
- This record as JSON: /data/d/2475.json