What is Pierre Robin Sequence with Cleft Mandible and Limb Anomalies?
Pierre Robin Sequence is a rare genetic syndrome that is characterized by a number of unique symptoms. These symptoms include distinct facial features and intellectual disability.
It is also referred to as Richieri Costa Pereira syndrome. It has been reported mainly in families of Brazilian descent.
This syndrome is also known as:
Acrofacial dysostosis- Richieri-Costa-Pereira type; Richieri-Costa and Pereira form of acrofacial dysostosis; Richieri-Costa-Pereira Syndrome; RCPS
What gene changes cause Pierre Robin Sequence with Cleft Mandible and Limb Anomalies?
Changes in the EIF4A3 gene are responsible for causing the syndrome.
It is inherited in an autosomal recessive pattern.
What are the main symptoms of Pierre Robin Sequence with Cleft Mandible and Limb Anomalies?
The main symptoms of the syndrome include those associated with the Pierre Robin sequence: a small jaw, a displaced or retracted tongue, and airway obstruction causing breathing issues, and a cleft palate.
Clubfoot is also a main symptom of the syndrome, and numerous skeletal abnormalities of the limbs have also been reported.
Developmental delay has also been associated with the syndrome as has sleep apnea.
Possible clinical traits/features:
Talipes equinovarus, Respiratory failure, Talipes, Tibial deviation of toes, Radial club hand, Radial deviation of the hand, Proximal placement of thumb, Reduced number of teeth, Short metacarpal, Fibular hypoplasia, Facial cleft, Feeding difficulties in infancy, Clinodactyly of the 5th finger, Prominent nose, Hip dislocation, High palate, Short thumb, Short phalanx of finger, Global developmental delay, Glossoptosis, Short tibia, Hypoplasia of the radius, Short stature, Bifid uvula, Cleft mandible, Cleft lower alveolar ridge, Cleft palate, Abnormality of the metacarpal bones, Abnormal aryepiglottic fold morphology, Abnormality of tibia morphology, Abnormality of the pinna, Abnormality of the voice, Acetabular dysplasia, Agenesis of mandibular central incisor, Aplasia/Hypoplasia of the thumb, Aplasia of the epiglottis, Pierre-Robin sequence, Protruding ear, Autosomal recessive inheritance, Low-set ears, Low-set, posteriorly rotated ears, Microretrognathia, Micrognathia, Narrow mouth.
How is it diagnosed?
To find out if someone has a diagnosis of Pierre Robin Sequence with Cleft Mandible and Limb Anomalies, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
