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Marshall-Smith syndrome
1 OMIM reference -
1 associated gene
36 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 11
Sotos syndrome
2 OMIM references -
2 associated genes
47 signs/symptoms
Marshall-Smith syndrome
Sotos syndrome

NFIX
(UniProt - OMIM)
 NFIX
(UniProt - OMIM)
NSD1
(UniProt - OMIM)

COMMON
GENES 		NFIX


Citations in the biomedical literature:


Marshall-Smith syndrome
NFIX
Sotos syndrome
NSD1



Marshall-Smith syndrome
Sotos syndrome

Synonym(s):
- Accelerated skeletal maturation - peculiar facies - failure to thrive
Synonym(s):
- Cerebral gigantism
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown
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:
1 OMIM reference -
1 MeSH reference: C536026
External references:
2 OMIM references -
1 MeSH reference: D058495
COMMON
SIGNS 		- Advanced bone age
- Anteverted nares / nostrils
- Conductive deafness / hearing loss
- Craniostenosis / craniosynostosis / sutural synostosis
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis

Marshall-Smith syndrome
Sotos syndrome

Very frequent
- Bowed diaphysis / diaphyses / long bones
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Proptosis / exophthalmos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Thin skin

Frequent
- Blue sclerae
- Death in infancy
- Ecchymoses
- Hirsutism / hypertrichosis / Increased body hair
- Laryngomalacia
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Mouth held open
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Short / small nose
- Stillbirth / neonatal death

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Congenital cardiac anomaly / malformation / cardiopathy
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Thickened / hypertrophic / fibromatous gingivae


Very frequent
- Autosomal dominant inheritance
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flattened nose
- High forehead
- High vaulted / narrow palate
- Hypotonia
- Long / large ear
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Prognathism / prognathia
- Tall stature / gigantism / growth acceleration

Frequent
- Corpus callosum / septum pellucidum total / partial agenesis
- 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
- EEG anomalies
- Genu valgum
- Genu varum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypereflexia
- Hypospadias / epispadias / bent penis
- Neoplasms / tumors
- Patent ductus arteriosus
- Polycystic kidneys
- Psychic / behavioural troubles
- Sacrococcygeal teratoma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter