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Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1

Atypical teratoid tumor

1 OMIM reference -
1 associated gene
16 signs/symptoms

Richieri Costa-Pereira syndrome

Atypical teratoid tumor

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EIF4A3	(0.49)	SMARCB1

Citations in the biomedical literature:

Richieri Costa-Pereira syndrome		Atypical teratoid tumor
	Synonym(s): - Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot - Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: (no data available)

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

Richieri Costa-Pereira syndrome		Atypical teratoid tumor
	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 - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - High vaulted / narrow palate - Proximally set thumb - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly		Very frequent - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Nausea / vomiting / regurgitation / merycism / hyperemesis Frequent - Ataxia / incoordination / trouble of the equilibrium - Early death / lethality - Facial pain / cephalalgia / migraine - Hemiplegia / diplegia / hemiparesia / limb palsy - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly - Muscle weakness / flaccidity - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Sleep and vigilance disorders Occasional - Acute palsy - Cranial nerves palsy - Intracranial / cerebral calcifications