Richieri Costa-Pereira syndrome

Richieri Costa-Pereira syndrome (RCPS), also known as Robin sequence with cleft mandible and limb anomalies, is a rare genetic disorder primarily affecting craniofacial development and the limbs. It was first described in Brazilian families and is caused by mutations in the EIF4A3 gene, which encodes a component of the exon junction complex involved in RNA processing. The syndrome is characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate or absent uvula), cleft of the mandible or lower lip, and distinctive limb abnormalities including short stature, clubfoot, and anomalies of the hands and feet such as absent or hypoplastic fingers and toes. Laryngeal and pharyngeal abnormalities, including laryngeal cleft, may also be present and can contribute to feeding and breathing difficulties in the neonatal period. Affected individuals typically present at birth with respiratory obstruction and feeding difficulties related to the Robin sequence. Additional features may include learning difficulties in some cases, though intellectual development is often normal. The skeletal findings can be variable, ranging from mild shortening of the limbs to more significant hand and foot malformations. Hearing loss has also been reported in some patients. Treatment is supportive and multidisciplinary. Neonatal management focuses on securing the airway and addressing feeding difficulties, which may require positioning techniques, nasopharyngeal airways, or surgical intervention such as mandibular distraction osteogenesis. Cleft palate repair, orthopedic management of limb anomalies, speech therapy, and audiological monitoring are important components of long-term care. Genetic counseling is recommended for affected families. There is currently no cure or disease-specific therapy for Richieri Costa-Pereira syndrome.

Common questions about Richieri Costa-Pereira syndrome