Robin Sequence With Cleft Mandible And Limb Anomalies

Description

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

EIF4A3

Clinical Features

Top most frequent phenotypes and symptoms related to Robin Sequence With Cleft Mandible And Limb Anomalies

Global developmental delay
Short stature
Pica
Micrognathia
Low-set ears
High palate
Feeding difficulties
Tics
Talipes equinovarus
Respiratory distress

And another 35 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us

Learn more

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 Panel GTR000552865 complete gene list RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3, SMC1A, NIPBL, NSD1, PTCH1, FGFR1, FGF8, SIX3, KMT2D, ANKRD11, OFD1, FGD1, ZEB2, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, DSPP, POLR1C, PAX3, SNAI2, SOX10, TCOF1, SIX1, FGF3, SEMA3E, TFAP2A, POLR1D, MID1, MED12, KAT6B, WDR35, PTH1R, NAA10, RAB23, MSX2, TWIST1, TGIF1, ZIC2, CDON, GLI2, TGFBR1, TGFBR2, SKI, EZH2, GLI3, MITF, TP63, KDM6A, GDF6, WDR19, FGF10, ALX4, SALL4, EFNB1, EFTUD2, GNAI3, SH3BP2, GJA1, SATB2, MASP1, IFT43, DISP1, IL11RA, IFT122, VAX1, ALX1, BMP4, GDF3, AXIN2, NFKBIA, CDSN, EDA, IRF6, SPECC1L, LRP2, CDC45, MEGF8, ERF, TCF12, ALX3, FOXE1, SF3B4, EDAR, WNT10A, ADAMTSL4, EDARADD, AMELX, MEOX1, EDN1, PLCB4, DLX3, GRHL3, FAM83H, MSX1, PAX9, LRP6, LTBP3, ENAM, NECTIN1, KLK4, MMP20, ODAPH, NOG, WDR72, SMOC2, KDM1A, SUMO1, TBX22, DLX4, EIF4A3, TSHZ1, HOXA2, PAX7, UBB Specificity 1 % Genes 100 %
EIF4A3. By Fulgent Genetics Fulgent Genetics in United States. EIF4A3 Specificity 100 % Genes 100 %
Richieri-Costa-Pereira Syndrome , Sequencing EIF4A3 Gene. By Reference Laboratory Genetics in Spain. EIF4A3 Specificity 100 % Genes 100 %

Alternate names

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.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS DEAFNESS, AUTOSOMAL DOMINANT 56; DFNA56 CRANIOSYNOSTOSIS 3; CRS3 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2