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).

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.
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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
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.


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