Robin Sequence With Cleft Mandible And Limb Anomalies
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 Favaro et al., 2011).
Genes related to Robin Sequence With Cleft Mandible And Limb Anomalies
Clinical FeaturesTop most frequent phenotypes and symptoms related to Robin Sequence With Cleft Mandible And Limb Anomalies
- Global developmental delay
- Short stature
- Low-set ears
- High palate
- Feeding difficulties
- Talipes equinovarus
- Respiratory distress
Incidence and onset information— Not enough data available about incidence and published cases.
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Robin Sequence With Cleft Mandible And Limb Anomalies Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
qGenEx Craniofacial Anomalies.
By Quantitative Genomic Medicine Laboratories, SL in Spain.
RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)
View the complete list with 116 more genes
By Fulgent Genetics Fulgent Genetics in United States.
Richieri-Costa-Pereira Syndrome , Sequencing EIF4A3 Gene.
By Reference Laboratory Genetics in Spain.
Robin Sequence With Cleft Mandible And Limb Anomalies Is also known as richieri-costa-pereira syndrome;rcps;short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome; short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome.
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