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Rett syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Shprintzen-Goldberg syndrome
1 OMIM reference -
2 associated genes
55 signs/symptoms
Rett syndrome
Shprintzen-Goldberg syndrome

MECP2
(UniProt - OMIM)
 FBN1
(UniProt - OMIM)
SKI
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MECP2
(0.79)
SKI


Citations in the biomedical literature:


Rett syndrome
MECP2
Shprintzen-Goldberg syndrome
FBN1 SKI



Rett syndrome
Shprintzen-Goldberg syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Marfanoid craniosynostosis syndrome
- SGS
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Mental and behavioural disorders -
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: adult
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D015518
External references:
1 OMIM reference -
1 MeSH reference: C537328
COMMON
SIGNS 		- Arnold-Chiari anomaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis

Rett syndrome
Shprintzen-Goldberg syndrome

Very frequent
- EEG anomalies
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Movement disorder
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Skull / cranial anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tics / stereotypias
- X-linked dominant inheritance

Frequent
- Anomalies of teeth and dentition
- Ataxia / incoordination / trouble of the equilibrium
- Autism / autistic disoders
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Metacarpal anomalies / Archibald's sign
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Arthrogryposis
- Auto-aggressivity / auto-mutilation
- Cardiac rhythm disorder / arrhythmia
- Early death / lethality
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Psychic / psychomotor regression / dementia / intellectual decline
- Small foot


Very frequent
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flat foot
- High vaulted / narrow palate
- Hypertelorism
- Hypotonia
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Proptosis / exophthalmos
- Telecanthus / canthal dystopy

Frequent
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Camptodactyly of some fingers
- Communicating hydrocephaly
- Craniostenosis / craniosynostosis / sutural synostosis
- Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes
- Frontal bossing / prominent forehead
- High forehead
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Inguinal / inguinoscrotal / crural hernia
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Pectus carinatum
- Pectus excavatum
- Ptosis
- Strabismus / squint
- Talipes-varus / metatarsal varus
- Umbilical hernia

Occasional
- Abnormal vertebral size / shape
- Absent / hypotonic / flaccid abdominal wall muscles
- Anteverted nares / nostrils
- Apnea / sleep apnea
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Conductive deafness / hearing loss
- Dilated cerebral ventricles without hydrocephaly
- Elbow dislocation
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Genu valgum
- Hyperelastic skin / cutaneous hyperlaxity
- Large fontanelle / delayed fontanelle closure
- Metaphyseal anomaly
- Myopia
- Narrow rib cage / thorax
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Prominent / bat ears
- Rib number anomalies
- Undescended / ectopic testes / cryptorchidia / unfixed testes