MCID: RBN014
MIFTS: 29

Robin Sequence with Cleft Mandible and Limb Anomalies

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Robin Sequence with Cleft Mandible and Limb Anomalies

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

Name: Robin Sequence with Cleft Mandible and Limb Anomalies 57 53 75
Richieri Costa Pereira Syndrome 53 29 6 40 73
Richieri-Costa-Pereira Syndrome 57 75
Rcps 57 75
Short Stature, Robin Sequence, Cleft Mandible, Pre/postaxial Hand Anomalies, and Clubfoot 53
Short Stature-Pierre Robin Sequence-Cleft Mandible-Hand Anomalies Clubfoot Syndrome 59
Short Stature-Pierre Robin Syndrome-Cleft Mandible-Hand Anomalies Clubfoot Syndrome 59
Richieri-Costa and Pereira Form of Acrofacial Dysostosis 53
Richieri-Costa-Pereira Syndrome; Rcps 57
Richieri-Costa and Pereira Syndrome 75
Richieri Costa-Pereira Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
richieri costa-pereira syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
robin sequence with cleft mandible and limb anomalies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 268305
Orphanet 59 ORPHA3102
MESH via Orphanet 45 C535677
UMLS via Orphanet 74 C1849348
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1849348
UMLS 73 C1849348

Summaries for Robin Sequence with Cleft Mandible and Limb Anomalies

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.

Related Diseases for Robin Sequence with Cleft Mandible and Limb Anomalies

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

# Related Disease Score Top Affiliating Genes
1 rhizomelic chondrodysplasia punctata 10.9
2 clubfoot 10.5
3 isolated pierre robin sequence 10.5
4 acrofacial dysostosis 10.4
5 dysostosis 10.4
6 laryngitis 10.4
7 breast cancer 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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
prominent ears

Head And Neck Mouth:
cleft palate
pierre-robin sequence
high-arched palate
microstomia
cleft uvula
more
Head And Neck Nose:
prominent nose

Skeletal Hands:
fifth finger clinodactyly
hypoplastic thumbs
proximally placed thumbs
radial deviation of hands
hypoplastic metacarpal bones
more
Voice:
abnormal voice

Head And Neck Teeth:
absent lower central incisors

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

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic clavicle (rare)
pseudoarthrosis of the clavicle (rare)

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties

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

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

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

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
Head And Neck Face:
retromicrognathia

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


Clinical features from OMIM:

268305

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

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

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

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

Genetic Tests for Robin Sequence with Cleft Mandible and Limb Anomalies

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

# Genetic test Affiliating Genes
1 Richieri Costa Pereira Syndrome 29 EIF4A3

Anatomical Context for Robin Sequence with Cleft Mandible and Limb Anomalies

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

41
Bone

Publications for Robin Sequence with Cleft Mandible and Limb Anomalies

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

# Title Authors Year
1
A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects. ( 24360810 )
2014
2
Dental anomalies in Richieri-Costa-Pereira syndrome. ( 22727098 )
2012
3
Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings. ( 22711187 )
2012
4
Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases. ( 21271648 )
2011

Variations for Robin Sequence with Cleft Mandible and Limb Anomalies

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

75
# Symbol AA change Variation ID SNP ID
1 EIF4A3 p.Asp270Gly VAR_071090 rs587777204

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EIF4A3 NM_014740.3(EIF4A3) indel Pathogenic GRCh37 Chromosome 17, 78120841: 78120858
2 EIF4A3 NM_014740.3(EIF4A3) indel Pathogenic GRCh38 Chromosome 17, 80147042: 80147059
3 EIF4A3 NG_046916.1 indel Pathogenic
4 EIF4A3 NM_014740.3(EIF4A3) indel Pathogenic GRCh38 Chromosome 17, 80147042: 80147059
5 EIF4A3 NM_014740.3(EIF4A3) indel Pathogenic GRCh37 Chromosome 17, 78120841: 78120858
6 EIF4A3 NM_014740.3(EIF4A3): c.809A> G (p.Asp270Gly) single nucleotide variant Pathogenic rs587777204 GRCh37 Chromosome 17, 78111999: 78111999
7 EIF4A3 NM_014740.3(EIF4A3): c.809A> G (p.Asp270Gly) single nucleotide variant Pathogenic rs587777204 GRCh38 Chromosome 17, 80138200: 80138200

Expression for Robin Sequence with Cleft Mandible and Limb Anomalies

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

Pathways for Robin Sequence with Cleft Mandible and Limb Anomalies

GO Terms for Robin Sequence with Cleft Mandible and Limb Anomalies

Sources for Robin Sequence with Cleft Mandible and Limb Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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