Cytoscape Web
Click node...

Sotos syndrome
2 OMIM references -
2 associated genes
25 connected diseases
47 signs/symptoms
Disease Type of connection
5q35 microduplication syndrome
Beckwith-Wiedemann syndrome due to NSD1 mutation
Marshall-Smith syndrome
Weaver syndrome
Peripheral resistance to thyroid hormones
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Acute promyelocytic leukemia
1p36 deletion syndrome
Estrogen resistance syndrome
Shprintzen-Goldberg syndrome
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Anaplastic ependymoma
Familial partial lipodystrophy associated with PPARG mutations
Generalized resistance to thyroid hormone
Giant cell glioblastoma
Gliosarcoma
Hypocalcemic vitamin D-resistant rickets
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Precursor B-cell acute lymphoblastic leukemia
Selective pituitary resistance to thyroid hormone
Synonym(s):
- Cerebral gigantism
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: D058495
Gene symbol UniProt reference OMIM reference
NFIX Q14938164005
NSD1 Q96L73606681
Very frequent
- Advanced bone age
- Autosomal dominant inheritance
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flattened nose
- Frontal bossing / prominent forehead
- High forehead
- High vaulted / narrow palate
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large ear
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Prognathism / prognathia
- Tall stature / gigantism / growth acceleration

Frequent
- Anteverted nares / nostrils
- Conductive deafness / hearing loss
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Dolichocephaly / scaphocephaly
- Generalized obesity
- Hypoglycemia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Precocious puberty
- Premature eruption of teeth / natal teeth

Occasional
- Abnormal fingernails
- Cardiac septal defect
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Coarse face
- Craniostenosis / craniosynostosis / sutural synostosis
- EEG anomalies
- Genu valgum
- Genu varum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypereflexia
- Hypospadias / epispadias / bent penis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Neoplasms / tumors
- Patent ductus arteriosus
- Polycystic kidneys
- Psychic / behavioural troubles
- Sacrococcygeal teratoma
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter