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RCPS
MCID: RBN014
MIFTS: 36

Robin Sequence with Cleft Mandible and Limb Anomalies (RCPS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Robin Sequence with Cleft Mandible and Limb Anomalies

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MalaCards integrated aliases for Robin Sequence with Cleft Mandible and Limb Anomalies:

Name: Robin Sequence with Cleft Mandible and Limb Anomalies 57 20 72
Richieri-Costa-Pereira Syndrome 57 72 36
Richieri Costa Pereira Syndrome 20 39 70
Richieri Costa-Pereira Syndrome 58 29 6
Rcps 57 72
Short Stature, Robin Sequence, Cleft Mandible, Pre/postaxial Hand Anomalies, and Clubfoot 20
Short Stature-Pierre Robin Sequence-Cleft Mandible-Hand Anomalies Clubfoot Syndrome 58
Short Stature-Pierre Robin Syndrome-Cleft Mandible-Hand Anomalies Clubfoot Syndrome 58
Richieri-Costa and Pereira Form of Acrofacial Dysostosis 20
Richieri-Costa-Pereira Syndrome; Rcps 57
Richieri-Costa and Pereira Syndrome 72

Characteristics:

Orphanet epidemiological data:

58
richieri costa-pereira syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
robin sequence with cleft mandible and limb anomalies:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 268305
KEGG 36 H02503
MESH via Orphanet 45 C535677
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1849348
Orphanet 58 ORPHA3102
MedGen 41 C1849348
UMLS 70 C1849348
Sources

Summaries for Robin Sequence with Cleft Mandible and Limb Anomalies

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3102 Definition Richieri 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.

MalaCards based summary : Robin Sequence with Cleft Mandible and Limb Anomalies, also known as richieri-costa-pereira syndrome, is related to acrofacial dysostosis and dysostosis. An important gene associated with Robin Sequence with Cleft Mandible and Limb Anomalies is EIF4A3 (Eukaryotic Translation Initiation Factor 4A3). The drugs Dopamine and Chlorpromazine have been mentioned in the context of this disorder. Affiliated tissues include prostate and bone, and related phenotypes are hip dislocation and fibular hypoplasia

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) (Updated 05-Apr-2021)

KEGG : 36 Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, and limb anomalies. This disorder is caused by decreased levels of EIF4A3, mostly due to an increased number of repeats at the 5'untranslated region (UTR) of EIF4A3.

UniProtKB/Swiss-Prot : 72 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.

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Related Diseases for Robin Sequence with Cleft Mandible and Limb Anomalies

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Diseases related to Robin Sequence with Cleft Mandible and Limb Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 10.6
2 dysostosis 10.6
3 isolated pierre robin sequence 10.6
4 clubfoot 10.5
5 autosomal recessive disease 10.5
6 cleft palate, isolated 10.4
7 apnea, obstructive sleep 10.3
8 pierre robin syndrome 10.3
9 tooth agenesis 10.3
10 sleep apnea 10.3
11 microcephaly 10.3
12 learning disability 10.3
13 ectodermal dysplasia-syndactyly syndrome 2 10.0

Graphical network of the top 20 diseases related to Robin Sequence with Cleft Mandible and Limb Anomalies:



Diseases related to Robin Sequence with Cleft Mandible and Limb Anomalies
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Symptoms & Phenotypes for Robin Sequence with Cleft Mandible and Limb Anomalies

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Human phenotypes related to Robin Sequence with Cleft Mandible and Limb Anomalies:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 hip dislocation 31 occasional (7.5%) HP:0002827
2 fibular hypoplasia 31 occasional (7.5%) HP:0003038
3 short tibia 31 occasional (7.5%) HP:0005736
4 hip subluxation 31 occasional (7.5%) HP:0030043
5 acetabular dysplasia 31 occasional (7.5%) HP:0008807
6 high palate 31 HP:0000218
7 global developmental delay 31 HP:0001263
8 short stature 31 HP:0004322
9 low-set ears 31 HP:0000369
10 talipes equinovarus 31 HP:0001762
11 narrow mouth 31 HP:0000160
12 clinodactyly of the 5th finger 31 HP:0004209
13 protruding ear 31 HP:0000411
14 abnormality of the voice 31 HP:0001608
15 short thumb 31 HP:0009778
16 microretrognathia 31 HP:0000308
17 proximal placement of thumb 31 HP:0009623
18 short metacarpal 31 HP:0010049
19 bifid uvula 31 HP:0000193
20 feeding difficulties 31 HP:0011968
21 hypoplasia of the radius 31 HP:0002984
22 prominent nose 31 HP:0000448
23 short phalanx of finger 31 HP:0009803
24 pierre-robin sequence 31 HP:0000201
25 mesomelia 31 HP:0003027
26 radial deviation of the hand 31 HP:0009486
27 aplasia of the epiglottis 31 HP:0008753
28 cleft mandible 31 HP:0010752
29 agenesis of mandibular central incisor 31 HP:0006355
30 abnormal aryepiglottic fold morphology 31 HP:0008744
31 cleft lower alveolar ridge 31 HP:0009094
32 tibial deviation of toes 31 HP:0100499

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Head And Neck Ears:
low-set ears
prominent ears

Head And Neck Nose:
prominent nose

Respiratory Larynx:
airway obstruction
short, round larynx
absent/abnormal epiglottis
abnormal aryepiglottic folds

Neurologic Central Nervous System:
developmental delay
learning disability
language delay/disorder

Voice:
abnormal voice

Skeletal Limbs:
hypoplastic radii
deformity of the distal extremity of the humerus
mesomelia of upper and lower limbs
hypoplastic/dysplastic ulna
hypoplastic tibia (rare)
more
Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic clavicle (rare)
pseudoarthrosis of the clavicle (rare)

Head And Neck Mouth:
cleft palate
pierre-robin sequence
cleft lower alveolar ridge
high-arched palate
microstomia
more
Abdomen Gastrointestinal:
feeding difficulties

Skeletal Skull:
cleft mandible
hypoplastic mandible
delayed ossification of the skull

Skeletal Feet:
tibial deviation of toes
club feet
hypoplastic halluces
hypoplastic and/or dysplastic calcaneus

Skeletal Hands:
fifth finger clinodactyly
hypoplastic thumbs
proximally placed thumbs
radial deviation of hands
hypoplastic metacarpal bones
more
Head And Neck Teeth:
absent lower central incisors

Head And Neck Face:
retromicrognathia

Skeletal Pelvis:
hip subluxation (rare)
acetabular dysplasia (rare)

Clinical features from OMIM®:

268305 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Robin Sequence with Cleft Mandible and Limb Anomalies

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Drugs for Robin Sequence with Cleft Mandible and Limb Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
2
Chlorpromazine Approved, Investigational, Vet_approved Phase 3 50-53-3 2726
3 Neurotransmitter Agents Phase 3
4 Gastrointestinal Agents Phase 3
5 Dopamine Agents Phase 3
6 Psychotropic Drugs Phase 3
7 Dopamine Antagonists Phase 3
8 Antiemetics Phase 3
9 Antipsychotic Agents Phase 3
10
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
11
Lenalidomide Approved Phase 2 191732-72-6 216326
12
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
13
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
14
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
15
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
16
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
17
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
18
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
19 Alkylating Agents Phase 2
20 Immunosuppressive Agents Phase 2
21 Angiogenesis Inhibitors Phase 2
22 Immunologic Factors Phase 2
23 Antirheumatic Agents Phase 2
24 Antineoplastic Agents, Hormonal Phase 2
25 Hormones Phase 2
26 glucocorticoids Phase 2
27 Hormone Antagonists Phase 2
28 Anti-Inflammatory Agents Phase 2
29 Methylprednisolone Acetate Phase 2
30
Vigabatrin Approved 60643-86-9, 68506-86-5 5665
31
Epinephrine Approved, Vet_approved 51-43-4 5816
32
Racepinephrine Approved 329-65-7 838
33 Anticonvulsants
34 Vaccines
35 Epinephryl borate

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Effect of Aerobic Training on Bronchial Hyperresponsiveness and Systemic Inflammation in Patients With Moderate or Severe Asthma: a Randomized Controlled Trial Unknown status NCT02033122 Phase 3
2 Repurposing of Chlorpromazine in Covid-19 Treatment Not yet recruiting NCT04366739 Phase 3 CHLORPROMAZINE (CPZ)
3 Phase II Study of Revlimid®, Oral Cyclophosphamide and Prednisone (RCP) for Patients With Newly Diagnosed Multiple Myeloma Completed NCT00540644 Phase 2 lenalidomide (Revlimid®);Cyclophosphamide;Prednisone
4 Prospective Phase II Randomized Trial of Prostate Capsule Sparing Cystectomy and Nerve-sparing Radical Cystoprostatectomy in Men With Bladder Cancer Completed NCT01824329 Phase 2
5 Effect of Aerobic Exercise Training on Ventilatory Efficiency in Patients With Coronary Artery Disease Completed NCT02106533 Phase 2
6 A Phase-2b, Double-Blind, Randomized Controlled Trial to Evaluate the Activity and Safety of Inebilizumab in Anti-Nmda Receptor Encephalitis and Assess Markers of Disease Not yet recruiting NCT04372615 Phase 2 Inebilizumab;Placebo
7 Sabril Patient Registry Completed NCT01073579 Sabril®
8 Analysis of the Specific Onco-geriatric Multidisciplinary Team Meeting (RCP) at E.Herriot Hospital (Hospices Civils de Lyon) Completed NCT03662061
9 Use of a Respiratory Care Practitioner Disease Management (RCP-DM) Program for Patients Hospitalized With COPD Completed NCT01543217
10 Neurologic Injury AAR: Neurologic Injury Following Aortic Arch Replacement: A Comparison of Two Different Cerebral Protection Strategies (A Pilot Study) Completed NCT02750423
11 Counterregulatory Hormone Production and Cognitive Function in Patients With Adrenal Insufficiency and Diabetes Mellitus Type I Completed NCT01452893
12 Effects of Six Months of Moderate Resistance- Versus Endurance-Training on Muscle ATP Synthesis in First-Degree Relatives of Patients With Type 2 Diabetes Completed NCT01145092
13 Effect of a Visual Feedback Device in Cardiopulmonary Resuscitation Training in AHA Certified ACLS Courses: Randomized Clinical Trial Completed NCT04338490
14 Effect of Short-Term Exercise Training on ATP Synthesis in Relatives of Type 2 Diabetic Humans Completed NCT00710008

Search NIH Clinical Center for Robin Sequence with Cleft Mandible and Limb Anomalies

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Genetic Tests for Robin Sequence with Cleft Mandible and Limb Anomalies

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Genetic tests related to Robin Sequence with Cleft Mandible and Limb Anomalies:

# Genetic test Affiliating Genes
1 Richieri Costa-Pereira Syndrome 29 EIF4A3
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Anatomical Context for Robin Sequence with Cleft Mandible and Limb Anomalies

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MalaCards organs/tissues related to Robin Sequence with Cleft Mandible and Limb Anomalies:

40
Prostate, Bone
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Publications for Robin Sequence with Cleft Mandible and Limb Anomalies

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Articles related to Robin Sequence with Cleft Mandible and Limb Anomalies:

(show all 22)
# Title Authors PMID Year
1
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. 61 57 6
24360810 2014
2
The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature. 57 6 61
21485002 2011
3
Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases. 6 57 61
21271648 2011
4
Richieri-costa and Pereira syndrome: severe phenotype. 6 57
23794199 2013
5
Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patients. 57 6
12955765 2003
6
Laryngeal malformations in the Richieri-Costa and Pereira form of acrofacial dysostosis. 6 57
8989456 1996
7
Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients. 6 57
8267000 1993
8
Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome. 57 6
1632438 1992
9
Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome. 57 61
12949973 2003
10
Richieri-Costa and Pereira form of acrofacial dysostosis: first description of an adult with mesomelic shortness of the lower limbs. 57
19938093 2009
11
New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. 57
17351350 2007
12
The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant. 57
10594883 1999
13
Craniofacial Features in Richieri-Costa-Pereira Syndrome. 61
33504197 2021
14
Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations). 61
32217860 2020
15
Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome. 61
29863549 2018
16
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. 61
29112243 2018
17
Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. 61
29922329 2018
18
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. 61
28334780 2017
19
A review of craniofacial disorders caused by spliceosomal defects. 61
25865758 2015
20
Generation of a Magoh conditional allele in mice. 61
24771530 2014
21
Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings. 61
22711187 2012
22
Dental anomalies in Richieri-Costa-Pereira syndrome. 61
22727098 2012
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Variations for Robin Sequence with Cleft Mandible and Limb Anomalies

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ClinVar genetic disease variations for Robin Sequence with Cleft Mandible and Limb Anomalies:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EIF4A3 NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[13] Indel Pathogenic 101500 GRCh37: 17:78120841-78120858
GRCh38: 17:80147042-80147059
2 EIF4A3 EIF4A3, 15-REPEAT EXPANSION Indel Pathogenic 101501 GRCh37:
GRCh38:
3 EIF4A3 NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10] Indel Pathogenic 101502 GRCh37: 17:78120841-78120858
GRCh38: 17:80147042-80147059
4 EIF4A3 NM_014740.4(EIF4A3):c.809A>G (p.Asp270Gly) SNV Pathogenic 101503 rs587777204 GRCh37: 17:78111999-78111999
GRCh38: 17:80138200-80138200

UniProtKB/Swiss-Prot genetic disease variations for Robin Sequence with Cleft Mandible and Limb Anomalies:

72
# Symbol AA change Variation ID SNP ID
1 EIF4A3 p.Asp270Gly VAR_071090 rs587777204

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Expression for Robin Sequence with Cleft Mandible and Limb Anomalies

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Search GEO for disease gene expression data for Robin Sequence with Cleft Mandible and Limb Anomalies.
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Pathways for Robin Sequence with Cleft Mandible and Limb Anomalies

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GO Terms for Robin Sequence with Cleft Mandible and Limb Anomalies

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Sources for Robin Sequence with Cleft Mandible and Limb Anomalies

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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