ORPHA:798
Schinzel-Giedion syndrome
Synonyms: SGS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schinzel-Giedion syndrome | SGS |
| fr | Syndrome de Schinzel-Giedion | = en |
| de | Schinzel-Giedion-Syndrom | = en |
| es | Síndrome de Schinzel-Giedion | |
| it | Sindrome di Schinzel-Giedion | = en |
| nl | Syndroom van Schinzel-Giedion | = en |
| pt | Síndrome Schintzel-Giedion | = en |
| pl | Zespół Schinzela i Giediona | = en |
| cs | Schinzelův-Giedionův syndrom | SGS · Syndrom Schinzel-Giedion · Schinzel-Giedionův syndrom |
| uk | Синдром Шинцеля-Гедіона | = en |
| zh | Schinzel-Giedion综合征 | = en |
| tr | Schinzel-Giedion sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269150 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0010010 | E | validated | |
| MeSH | C536632 | E | validated | |
| UMLS | C0265227 | E | validated | |
| GARD | 117 | E | validated | |
| MedDRA | 10063540 | 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:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3118Rudiger syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SETBP1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:15573 | ENSG00000152217 | 611060 | 18q12.3 | SET binding protein 1 | 20436468[PMID]_21371013[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18398855[PMID] |
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT] |
| Cases/families | 46 cases | Worldwide | Case(s) | Validated | 18398855[PMID]_[EXPERT] |
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
92 annotations · validated 2019-03-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000337 | Broad forehead | |
| HP:0000455 | Broad nasal tip | |
| HP:0002007 | Frontal bossing | |
| HP:0011800 | Midface retrusion | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0012736 | Profound global developmental delay | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0011039 | Abnormal helix morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000885 | Broad ribs | |
| HP:0000329 | Facial hemangioma | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0004554 | Generalized hypertrichosis | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000369 | Low-set ears | |
| HP:0000158 | Macroglossia | |
| HP:0000341 | Narrow forehead | |
| HP:0000520 | Proptosis | |
| HP:0001250 | Seizure | |
| HP:0000586 | Shallow orbits | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000470 | Short neck | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
| HP:0000260 | Wide anterior fontanel | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0000375 | Abnormal cochlea morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0000168 | Abnormality of the gingiva | |
| HP:0008628 | Abnormality of the stapes | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0000522 | Alacrima | |
| HP:0001734 | Annular pancreas | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0000187 | Broad alveolar ridges | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0007099 | Chiari type I malformation | |
| HP:0000452 | Choanal stenosis | |
| HP:0002190 | Choroid plexus cyst | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000218 | High palate | |
| HP:0003173 | Hypoplastic pubic bone | |
| HP:0008610 | Infantile sensorineural hearing impairment | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000347 | Micrognathia | |
| HP:0045005 | Neural tube defect | |
| HP:0010557 | Overlapping fingers | |
| HP:0001845 | Overlapping toe | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002098 | Respiratory distress | |
| HP:0000278 | Retrognathia | |
| HP:0002694 | Sclerosis of skull base | |
| HP:0010034 | Short 1st metacarpal | |
| HP:0010464 | Streak ovary | |
| HP:0009792 | Teratoma | |
| HP:0002982 | Tibial bowing | |
| HP:0001537 | Umbilical hernia | |
| HP:0002645 | Wormian bones | |
| Very rare (<4-1%) | ||
| HP:0000069 | Abnormality of the ureter | |
| HP:0012385 | Camptodactyly | |
| HP:0011787 | Central hypothyroidism | |
| HP:0000280 | Coarse facial features | |
| HP:0002015 | Dysphagia | |
| HP:0002888 | Ependymoma | |
| HP:0011097 | Epileptic spasm | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002884 | Hepatoblastoma | |
| HP:0001276 | Hypertonia | |
| HP:0005349 | Hypoplasia of the epiglottis | |
| HP:0000047 | Hypospadias | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0000023 | Inguinal hernia | |
| HP:0009748 | Large earlobe | |
| HP:0001601 | Laryngomalacia | |
| HP:0000054 | Micropenis | |
| HP:0012324 | Myeloid leukemia | |
| HP:0002667 | Nephroblastoma | |
| HP:0000787 | Nephrolithiasis | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0000107 | Renal cyst | |
| HP:0030736 | Sacrococcygeal teratoma | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
| HP:0001257 | Spasticity | |
| HP:0025259 | Stiff elbow | |
| HP:0001605 | Vocal cord paralysis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 28346496[PMID]_25663181[PMID]_25028416[PMID]_21371013[PMID]_18398855[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/798
- This record as JSON: /data/d/798.json