ORPHA:821
Sotos syndrome
Synonyms: Cerebral gigantism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sotos syndrome | Cerebral gigantism |
| fr | Syndrome de Sotos | Gigantisme cérébral |
| de | Sotos-Syndrom | Gigantismus, zerebraler |
| es | Síndrome de Sotos | Gigantismo cerebral |
| it | Sindrome di Sotos | Gigantismo cerebrale |
| nl | Syndroom van Sotos | Cerebraal gigantisme |
| pt | Síndrome Sotos | Gigantismo cerebral |
| pl | Zespół Sotosa | Gigantyzm mózgowy |
| cs | Sotosův syndrom | Cerebrální gigantismus |
| uk | Синдром Сотоса | Церебральний гігантизм |
| zh | Sotos综合征 | 脑性巨人症 |
| tr | Sotos sendromu | Serebral jigantizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 117550 | BTNT | validated | |
| OMIM | 617169 | BTNT | validated | |
| OMIM | 618677 | BTNT | validated | |
| ICD-10 | Q87.3 | NTBT | inclusion | validated |
| ICD-11 | LD2C | NTBT | index | validated |
| MONDO | 0019349 | E | validated | |
| MeSH | D058495 | E | validated | |
| UMLS | C0175695 | E | validated | |
| GARD | 10091 | E | validated | |
| MedDRA | 10064387 | 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 (8):
- 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:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:262038Partial deletion of the long arm of chromosome 5 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:238613OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation referred to · inactive
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APC2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24036 | ENSG00000115266 | 612034 | 19p13.3 | APC regulator of Wnt signaling pathway 2 | 25753423[PMID]_31585108[PMID] |
| NSD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14234 | ENSG00000165671 | 606681 | 5q35.3 | nuclear receptor binding SET domain protein 1 | 20301652[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7.1 / 100 000 | Worldwide | Value and class | Not yet validated | 20301652[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Not yet validated | 20301652[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET_EUROCAT European surveillance of congenital anomalies 2005-2010[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
107 annotations · validated 2020-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000280 | Coarse facial features | |
| HP:0012771 | Increased arm span | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000483 | Astigmatism | |
| HP:0000708 | Atypical behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000389 | Chronic otitis media | |
| HP:0002019 | Constipation | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0011968 | Feeding difficulties | |
| HP:0031284 | Flushing | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0040194 | Increased head circumference | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001382 | Joint hypermobility | |
| HP:0000276 | Long face | |
| HP:0000275 | Narrow face | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0011220 | Prominent forehead | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0004768 | Sparse anterior scalp hair | |
| HP:0400000 | Tall chin | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0004942 | Aortic aneurysm | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0001631 | Atrial septal defect | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002389 | Cavum septum pellucidum | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002442 | Dyscalculia | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0001371 | Flexion contracture | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002808 | Kyphosis | |
| HP:0001176 | Large hands | |
| HP:0000256 | Macrocephaly | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0010741 | Pedal edema | |
| HP:0001763 | Pes planus | |
| HP:0002370 | Poor coordination | |
| HP:0000083 | Renal insufficiency | |
| HP:0001337 | Tremor | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000076 | Vesicoureteral reflux | |
| Very rare (<4-1%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0006721 | Acute lymphoblastic leukemia | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0006349 | Agenesis of permanent teeth | |
| HP:0006466 | Ankle flexion contracture | |
| HP:0009592 | Astrocytoma | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0005617 | Bilateral camptodactyly | |
| HP:0000518 | Cataract | |
| HP:0009797 | Cholesteatoma | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0010957 | Congenital posterior urethral valve | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0000144 | Decreased fertility | |
| HP:0000696 | Delayed eruption of permanent teeth | |
| HP:0001028 | Hemangioma | |
| HP:0003273 | Hip contracture | |
| HP:0000034 | Hydrocele testis | |
| HP:0000126 | Hydronephrosis | |
| HP:0003072 | Hypercalcemia | |
| HP:0000540 | Hypermetropia | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000668 | Hypodontia | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0000047 | Hypospadias | |
| HP:0000821 | Hypothyroidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000545 | Myopia | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0002664 | Neoplasm | |
| HP:0003006 | Neuroblastoma | |
| HP:0000639 | Nystagmus | |
| HP:0000767 | Pectus excavatum | |
| HP:0001741 | Phimosis | |
| HP:0032447 | Pulmonary bleb | |
| HP:0000104 | Renal agenesis | |
| HP:0030736 | Sacrococcygeal teratoma | |
| HP:0030357 | Small cell lung carcinoma | |
| HP:0001792 | Small nail | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001537 | Umbilical hernia | |
| HP:0000073 | Ureteral duplication | |
| HP:0000074 | Ureteropelvic junction obstruction | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301652[PMID]_31479583[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/821
- This record as JSON: /data/d/821.json