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1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
26 signs/symptoms
Richieri Costa-Pereira syndrome
Reynolds syndrome

EIF4A3 LBR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EIF4A3
(0.49)
LBR



Citations in the biomedical literature:


Richieri Costa-Pereira syndrome
EIF4A3
Reynolds syndrome
LBR



Richieri Costa-Pereira syndrome
Reynolds syndrome

Synonym(s):
- Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot
- Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot

Synonym(s):
- Primary biliary cirrhosis and systemic scleroderma

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare hepatic disease
- Rare renal disease
- Rare skin disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: C535677
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Richieri Costa-Pereira syndrome
Reynolds syndrome

Very frequent
- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Prominent / bat ears
- Radial club hand
- Short stature / dwarfism / nanism
- Talipes-varus / metatarsal varus
- Thumb hypoplasia / aplasia / absence

Frequent
- Anodontia / oligodontia / hypodontia
- Clinodactyly of fifth finger
- Facial cleft
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Glossoptosis
- Metacarpal anomalies / Archibald's sign
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray

Occasional
- High vaulted / narrow palate
- Proximally set thumb
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly


Very frequent
- Asthenia / fatigue / weakness
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Myalgia / muscular pain
- Pruritus / itching

Frequent
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Arthritis / synovitis / synovial proliferation
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dermal / subcutaneous infiltration / induration
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Irregular / in bands / reticular skin hyperpigmentation
- Mouth dryness / xerostomia
- Periarticular tissue anomaly / extraarticular calcifications
- Telangiectasiae of mucosae
- Telangiectasiae of the skin
- Tight skin / lack of elasticity
- Xerophthalmia / dry eyes

Occasional
- Ascitis
- Cirrhosis
- Encephalitis
- Hepatitis / icterus / cholestasis
- Lichen