RCPS
MCID: RBN014
MIFTS: 30
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Robin Sequence with Cleft Mandible and Limb Anomalies (RCPS)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Robin Sequence with Cleft Mandible and Limb Anomalies:
Characteristics:Orphanet epidemiological data:59
richieri costa-pereira syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Ear diseases
ICD10:
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3102Disease definitionRichieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.Visit the Orphanet disease page for more resources.
MalaCards based summary : Robin Sequence with Cleft Mandible and Limb Anomalies, also known as richieri costa pereira syndrome, is related to rhizomelic chondrodysplasia punctata and clubfoot. An important gene associated with Robin Sequence with Cleft Mandible and Limb Anomalies is EIF4A3 (Eukaryotic Translation Initiation Factor 4A3). Affiliated tissues include bone, and related phenotypes are low-set ears and high palate OMIM : 57 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). (268305) UniProtKB/Swiss-Prot : 75 Richieri-Costa-Pereira syndrome: A syndrome characterized by a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding. |
Diseases related to Robin Sequence with Cleft Mandible and Limb Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Robin Sequence with Cleft Mandible and Limb Anomalies:![]() |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:268305Human phenotypes related to Robin Sequence with Cleft Mandible and Limb Anomalies:32 (show all 32)
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MalaCards organs/tissues related to Robin Sequence with Cleft Mandible and Limb Anomalies:41
Bone
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Articles related to Robin Sequence with Cleft Mandible and Limb Anomalies:
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UniProtKB/Swiss-Prot genetic disease variations for Robin Sequence with Cleft Mandible and Limb Anomalies:75
ClinVar genetic disease variations for Robin Sequence with Cleft Mandible and Limb Anomalies:6
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Search
GEO
for disease gene expression data for Robin Sequence with Cleft Mandible and Limb Anomalies.
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