ORPHA:2462
Shprintzen-Goldberg syndrome
Synonyms: Marfanoid craniosynostosis syndrome · SGS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Shprintzen-Goldberg syndrome | Marfanoid craniosynostosis syndrome · SGS |
| fr | Syndrome de Shprintzen-Goldberg | Syndrome d'habitus marfanoïde-craniosynostose |
| de | Shprintzen-Goldberg-Syndrom | Marfan-ähnliches Kraniosynostose-Syndrom · SGS |
| es | Síndrome de Shprintzen-Goldberg | Síndrome marfanoide con craneosinostosis |
| it | Sindrome di Shprintzen-Goldberg | Sindrome marfanoide da craniosinostosi |
| nl | Syndroom van Shprintzen-Goldberg | Marfanoïde craniosynostose-syndroom · SGS |
| pt | Síndrome Shprintzen-Goldberg | SGS · Síndrome craniossinostose-hábito marfanoide |
| pl | Zespół Shprintzena i Goldberga | SGS · Zespół kranioosynostozy marfanoidalnej |
| cs | Shprintzenův-Goldbergův syndrom | Syndrom marfanoidní kraniosynostózy · SGS · Shprintzen-Goldbergův syndrom |
| uk | Синдром Шпрінцена-Гольдберга | Синдром марфаноїдного краніосиностозу · SGS |
| zh | Shprintzen-Goldberg综合症 | 马方综合征的颅缝早闭综合征 |
| tr | Shprintzen-Goldberg sendromu | SGS · Marfanoid kraniyosinostozis sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182212 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD28.0Y | NTBT | index | validated |
| MONDO | 0008426 | E | validated | |
| MeSH | C537328 | E | validated | |
| UMLS | C1321551 | E | validated | |
| GARD | 4861 | E | validated | |
| MedDRA | 10082234 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:284993Marfan syndrome and Marfan-related disorders
rare genetic diseases; rare systemic and rheumatological 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:2352Kozlowski-Brown-Hardwick syndrome moved to · inactive
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FBN1 | Candidate gene tested in | Not yet assessed | HGNC:3603 | ENSG00000166147 | 134797 | 15q21.1 | fibrillin 1 | 20301454[PMID]_8563763[PMID]_9338588[PMID]_16333834[PMID] |
| SKI | Disease-causing germline mutation(s) in | Assessed | HGNC:10896 | ENSG00000157933 | 164780 | 1p36.33-p36.32 | SKI proto-oncogene | 23023332[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 20301454[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301454[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
53 annotations · validated 2017-12-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0001763 | Pes planus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000520 | Proptosis | |
| HP:0000278 | Retrognathia | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001334 | Communicating hydrocephalus | |
| HP:0001363 | Craniosynostosis | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000023 | Inguinal hernia | |
| HP:0001382 | Joint hypermobility | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0002104 | Apnea | |
| HP:0006487 | Bowing of the long bones | |
| HP:0002308 | Chiari malformation | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0003042 | Elbow dislocation | |
| HP:0001508 | Failure to thrive | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002857 | Genu valgum | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001387 | Joint stiffness | |
| HP:0000252 | Microcephaly | |
| HP:0000921 | Missing ribs | |
| HP:0000545 | Myopia | |
| HP:0000774 | Narrow chest | |
| HP:0000938 | Osteopenia | |
| HP:0000411 | Protruding ear | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2462
- This record as JSON: /data/d/2462.json