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Smith-Magenis syndrome
1 OMIM reference -
2 associated genes
72 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9
Fraser syndrome
1 OMIM reference -
3 associated genes
52 signs/symptoms
Smith-Magenis syndrome
Fraser syndrome

FLII
(UniProt - OMIM)
 FRAS1
(UniProt - OMIM)
RAI1
(UniProt - OMIM)
 FREM2
(UniProt - OMIM)
GRIP1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FLII
(0.55)
GRIP1


Citations in the biomedical literature:


Smith-Magenis syndrome
FLII RAI1
Fraser syndrome
FRAS1 FREM2 GRIP1



Smith-Magenis syndrome
Fraser syndrome

Synonym(s):
- 17p11.2 microdeletion
Synonym(s):
- Cryptophthalmos-syndactyly syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D058496
External references:
1 OMIM reference -
1 MeSH reference: D058497
COMMON
SIGNS 		- Agenesis / hypoplasia / aplasia of kidneys
- Broad nose / nasal bridge
- Cleft lip
- Conductive deafness / hearing loss
- Congenital cardiac anomaly / malformation / cardiopathy
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Syndactyly of toes

Smith-Magenis syndrome
Fraser syndrome

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Anodontia / oligodontia / hypodontia
- Areflexia / hyporeflexia
- Auto-aggressivity / auto-mutilation
- Brachycephaly / flat occiput
- Broad forehead
- Deepset eyes / enophthalmos
- Depressed nasal bridge
- Frontal bossing / prominent forehead
- Generalized obesity
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Large face
- Mid-facial hypoplasia / short / small midface
- Respiratory-digestive intersection / aero-digestive cross-roads anomaly
- Short hand / brachydactyly
- Sleep and vigilance disorders
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Synophris / synophrys
- Taurodontia
- Tented upper lip
- Tics / stereotypias
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Abnormal gait
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Chronic / relapsing otitis
- Clinodactyly of fifth finger
- Constipation
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- EEG anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fetal immobility / abnormal fetal movements
- Flat foot
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hyperacusia
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insensitivity to pain
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mouth held open
- Myopia
- Peripheral neuropathy
- Prognathism / prognathia
- Scoliosis
- Short philtrum
- Short stature / dwarfism / nanism
- Short / small nose
- Strabismus / squint

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Ectopic / horseshoe / fused kidneys
- Hypothyroidy
- Late puberty / hypogonadism / hypogenitalism
- Precocious puberty
- Restricted joint mobility / joint stiffness / ankylosis
- Retinal detachment
- Seizures / epilepsy / absences / spasms / status epilepticus
- Upper limb polydactyly / hexadactyly
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter


Very frequent
- Autosomal recessive inheritance
- Cryptophthalmia / ankyloblepharon / synblepharon
- Defect / anomaly of lacrimal system
- Multicystic kidney / renal dysplasia
- Syndactyly of fingers / interdigital palm
- Visual loss / blindness / amblyopia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Ambiguous genitalia
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cleft / notched / bifid tongue
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Larynx / laryngeal stenosis / atresia
- Low set ears / posteriorly rotated ears
- Micropenis / small penis / agenesis
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Occasional
- Abnormal implantation of hair
- Abnormally placed nipples
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Anus ectopia / anteposition / malposition
- Bifid tip / cleft nose / supernumerary nose
- Bladder and ureter anomalies
- Cleft lip and palate
- Death in infancy
- Encephalocele / exencephaly
- External auditory canal atresia / stenosis / agenesis
- High vaulted / narrow palate
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Hypospadias / epispadias / bent penis
- Myelomeningocele
- Omphalocele / exomphalos
- Scalp / skull defect
- Stillbirth / neonatal death
- Thin / hypoplastic ala nasi
- Tracheal atresia / stenosis
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies
- Vertebral segmentation anomaly / hemivertebrae