Richieri Costa Pereira syndrome

Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot

Also Known As:

Richieri-Costa and Pereira form of acrofacial dysostosis; Richieri-Costa-Pereira Syndrome; Robin sequence with cleft mandible and limb anomalies

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

1.	Intellectual Disability (Idiocy)
2.	Pierre Robin Syndrome (Syndrome, Pierre Robin)
3.	Dysostoses
4.	Cerebrocostomandibular Syndrome
5.	Nager type Acrofacial dysostosis

1.	Carvalho, Izabel M M: 1 article (11/2021)
2.	Pardo, Milena P: 1 article (11/2021)
3.	Santos, Gabriela Lopes Dos: 1 article (11/2021)
4.	Tjioe, Kellen Cristine: 1 article (11/2021)
5.	Allen, Miranda: 1 article (01/2017)
6.	Bertola, Debora R: 1 article (01/2017)
7.	Goulart, Ernesto: 1 article (01/2017)
8.	Griesi-Oliveira, Karina: 1 article (01/2017)
9.	Ishiy, Felipe A A: 1 article (01/2017)
10.	Kobayashi, Gerson S: 1 article (01/2017)

Drugs and Important Biological Agents (IBA) related to Richieri Costa Pereira syndrome:

1.	RNA Helicases (RNA Helicase)IBA 01/14/2023 - "In particular, reduced levels of the RNA helicase EIF4A3 cause Richieri-Costa-Pereira Syndrome (RCPS) and CNVs are linked to intellectual disability. " 01/01/2023 - "In particular, reduced levels of the RNA helicase EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS) and copy number variations are linked to intellectual disability. "
2.	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/01/2017 - "Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. "
3.	Messenger RNA (mRNA)IBA 11/01/2015 - "Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms. "

1.	Operative Surgical Procedures 11/01/2021 - "Patients with Richieri-Costa-Pereira syndrome (RCPS) present severe craniofacial alterations and frequently require orthodontic and surgical procedures. "