SCARF syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SCARF syndrome | |
| fr | Syndrome SCARF | |
| de | SCARF-Syndrom | |
| es | Síndrome SCARF | |
| it | Sindrome SCARF | |
| nl | SCARF-syndroom | |
| pt | Síndrome SCARF | |
| pl | Zespół SCARF | |
| cs | SCARF syndrom | |
| uk | Синдром SCARF | |
| zh | SCARF综合征 | |
| tr | SCARF sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312830 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD28.2 | NTBT | index | validated |
| MONDO | 0010728 | E | validated | |
| MeSH | C536625 | E | validated | |
| UMLS | C1839321 | E | validated | |
| GARD | 247 | 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:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 2596519[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2596519[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
32 annotations · validated 2017-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000048 | Bifid scrotum | |
| HP:0000280 | Coarse facial features | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0000973 | Cutis laxa | |
| HP:0001540 | Diastasis recti | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000286 | Epicanthus | |
| HP:0012028 | Hepatocellular adenoma | |
| HP:0011084 | Hypocalcification of dental enamel | |
| HP:0000023 | Inguinal hernia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0002162 | Low posterior hairline | |
| HP:0000054 | Micropenis | |
| HP:0000768 | Pectus carinatum | |
| HP:0000051 | Perineal hypospadias | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0000470 | Short neck | |
| HP:0000879 | Short sternum | |
| HP:0008070 | Sparse hair | |
| HP:0000486 | Strabismus | |
| HP:0001537 | Umbilical hernia | |
| HP:0000465 | Webbed neck | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0012810 | Wide nasal base | |
| Occasional (29-5%) | ||
| HP:0002557 | Hypoplastic nipples | |
| HP:0002342 | Intellectual disability, moderate | |
Annotation source: 2596519[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3134
- This record as JSON: /data/d/3134.json