Richieri Costa Pereira syndrome

Common Name(s)

Richieri Costa Pereira syndrome, Short stature Robin sequence cleft mandible hand anomalies clubfoot

Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by {2:Favaro et al., 2011}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Richieri Costa Pereira syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Richieri Costa Pereira syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
 

Author(s): Francine P Favaro, Lucas Alvizi, Roseli M Zechi-Ceide, Debora Bertola, Temis M Felix, Josiane de Souza, Salmo Raskin, Stephen R F Twigg, Andrea M J Weiner, Pablo Armas, Ezequiel Margarit, Nora B Calcaterra, Gregers R Andersen, Simon J McGowan, Andrew O M Wilkie, Antonio Richieri-Costa, Maria L G de Almeida, Maria Rita Passos-Bueno

Journal: Am. J. Hum. Genet.. 2014 Jan;94(1):120-8.

 

Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities are also prevalent. We mapped the mutated gene to a 122 ...

Last Updated: 31 Dec 1969

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[Laryngeal malformations in the Richieri Costa and Pereira syndrome with airway obstruction].
 

Author(s): Patrícia Barcelos Ogando, Fábio Pires, Rita Carolina Pozzer Krummenauer, Marcus Vinícius Martins Collares, José Faibes Lubianca Neto

Journal: Braz J Otorhinolaryngol. ;77(1):138.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Richieri Costa Pereira syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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