MCID: RBN009
MIFTS: 44

Robinow Syndrome, Autosomal Recessive

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Robinow Syndrome, Autosomal Recessive

MalaCards integrated aliases for Robinow Syndrome, Autosomal Recessive:

Name: Robinow Syndrome, Autosomal Recessive 57 29 13 55 6 40 73
Covesdem Syndrome 12 76 59 75
Rrs 57 12 59 75
Autosomal Recessive Robinow Syndrome 12 59 15
Costovertebral Segmentation Defect-Mesomelia Syndrome 12 59
Robinow Syndrome, Autosomal Recessive, with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals 6
Robinow Syndrome Autosomal Recessive with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals 75
Robinow Syndrome, Autosomal Recessive, with Brachy-Syn-Polydactyly 6
Robinow Syndrome Autosomal Recessive with Brachy-Syn-Polydactyly 75
Costovertebral Segmentation Defect with Mesomelia, Formerly 57
Costovertebral Segmentation Defect with Mesomelia 75
Robinow Syndrome Autosomal Recessive 75
Covesdem Syndrome, Formerly 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive robinow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
see also autosomal dominant robinow syndrome
allelic disorder to brachydactyly type b


HPO:

32
robinow syndrome, autosomal recessive:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Robinow Syndrome, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Robinow syndrome autosomal recessive: A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet.

MalaCards based summary : Robinow Syndrome, Autosomal Recessive, also known as covesdem syndrome, is related to robinow syndrome and richards-rundle syndrome. An important gene associated with Robinow Syndrome, Autosomal Recessive is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include bone, tongue and kidney, and related phenotypes are macrocephaly and hypertelorism

OMIM : 57 Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). (268310)

Disease Ontology : 12 A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has material basis in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.

Wikipedia : 76 Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism,... more...

Related Diseases for Robinow Syndrome, Autosomal Recessive

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 1 Robinow Syndrome, Autosomal Recessive
Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 3
Autosomal Dominant Robinow Syndrome Ror2-Related Robinow Syndrome
Robinow-Like Syndrome

Diseases related to Robinow Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome 23.4 BCL2A1 HPSE HSPD1 IARS INHA LMBR1
2 richards-rundle syndrome 10.9
3 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 10.9
4 robinow syndrome, autosomal dominant 1 10.9
5 uv-sensitive syndrome 1 10.9
6 uv-sensitive syndrome 2 10.9
7 uv-sensitive syndrome 3 10.9
8 robinow syndrome, autosomal dominant 2 10.9
9 robinow syndrome, autosomal dominant 3 10.9
10 chaotic atrial tachycardia 10.9
11 israeli tick typhus 10.4 HPSE PLEKHG4
12 amelogenesis imperfecta, type ig 10.3 LMBR1 PTCHD3
13 epithelioid trophoblastic tumor 10.0 INHA SALL4
14 brachydactyly, type b1 10.0
15 brachydactyly 10.0
16 long qt syndrome 10.0
17 mesomelia 9.9
18 ventricular fibrillation, paroxysmal familial, 1 9.9
19 atrial fibrillation 9.9
20 interstitial emphysema 9.8 SLC22A4 TWIST1
21 placental site trophoblastic tumor 9.8 INHA SALL4
22 colorectal cancer 9.7
23 multiple sclerosis 9.7
24 neural tube defects 9.7
25 myeloma, multiple 9.7
26 pancreatic cancer 9.7
27 orthostatic intolerance 9.7
28 myocardial infarction 9.7
29 acute myocardial infarction 9.7
30 hepatitis 9.7
31 neutropenia 9.7
32 asymptomatic dengue 9.7
33 borderline leprosy 9.7
34 common cold 9.7
35 microphthalmia 9.7
36 diabetic autonomic neuropathy 9.7
37 autonomic neuropathy 9.7
38 cholera 9.7
39 atrial heart septal defect 9.7
40 relapsing-remitting multiple sclerosis 9.7
41 retinitis 9.7
42 hyperglycemia 9.7
43 pancreatitis 9.7
44 neuropathy 9.7
45 systolic heart failure 9.7
46 baroreflex failure 9.7
47 fibromyalgia 9.7
48 dysautonomia 9.7
49 mycobacterium tuberculosis 1 9.2 HSPD1 INHA RPS12

Graphical network of the top 20 diseases related to Robinow Syndrome, Autosomal Recessive:



Diseases related to Robinow Syndrome, Autosomal Recessive

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
macroglossia
downturned mouth corners (95%)
triangular mouth (86%)
thin upper lip (29%)
gingival hyperplasia (71%)
more
Skin Nails Hair Skin:
nevus flammeus

Head And Neck Ears:
posteriorly rotated ears
low-set ears (45%)

Neurologic Central Nervous System:
developmental delay
mental retardation (18% of patients)

Skeletal:
delayed bone age

Head And Neck Head:
large anterior fontanel
delayed fontanel closure
macrocephaly (26%)

Chest Ribs Sternum Clavicles And Scapulae:
absent ribs
pectus excavatum (31%)
rib fusion (100%)

Head And Neck Nose:
anteverted nares (96%)
short, upturned nose (95%)
broad nasal bridge (95%)
depressed nasal bridge (49%)

Skeletal Feet:
bifid terminal phalanges
broad toes (24%)

Head And Neck Neck:
short neck (31%)

Genitourinary External Genitalia Female:
small clitoris (80%)
small labia minora (81%)
small labia majora (40%)

Skeletal Limbs:
mesomelia (100%)
limited elbow supination (37%)

Abdomen External Features:
umbilical hernia
abnormal umbilicus

Genitourinary Kidneys:
hydronephrosis
renal duplication (10%)

Skeletal Spine:
thoracolumbar scoliosis
fused vertebrae
scoliosis (77%)
thoracic hemivertebrae (98%)
hypoplastic sacrum

Head And Neck Eyes:
downslanting palpebral fissures
hypertelorism (100%)
wide palpebral fissures (34%)
prominent eyes (14%)
long eyelashes (59%)

Skeletal Hands:
brachymesophalangism v
bifid terminal phalanges
small hands (84%)
brachydactyly (91%)
clinodactyly (88%)
more
Head And Neck Face:
flat facial profile
frontal bossing (78%)
long philtrum (39%)
micrognathia (68%)
retrognathia (37%)
more
Head And Neck Teeth:
delayed eruption of secondary teeth
crowded teeth (94%)

Cardiovascular Heart:
right ventricular outlet obstruction

Growth Height:
short stature (postnatal onset) (97%)

Genitourinary External Genitalia Male:
small penis (100%)
inguinal hernia (21%)

GenitourinaryInternal GenitaliaMale:
cryptorchidism (67%)

Skin Nails Hair Nails:
nail dysplasia (35%)


Clinical features from OMIM:

268310

Human phenotypes related to Robinow Syndrome, Autosomal Recessive:

59 32 (show top 50) (show all 119)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 short neck 59 32 very rare (1%) Occasional (29-5%) HP:0000470
4 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
5 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
6 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
7 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
8 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
9 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
10 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
11 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
12 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
13 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
14 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
15 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
16 depressed nasal bridge 59 32 very rare (1%) Frequent (79-30%) HP:0005280
17 open bite 59 32 hallmark (90%) Very frequent (99-80%) HP:0010807
18 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
19 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
20 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
21 short nose 59 32 very rare (1%) Very frequent (99-80%) HP:0003196
22 anteverted nares 59 32 very rare (1%) Very frequent (99-80%) HP:0000463
23 broad hallux phalanx 59 32 frequent (33%) Frequent (79-30%) HP:0010059
24 broad thumb 59 32 frequent (33%) Frequent (79-30%) HP:0011304
25 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
26 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
27 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
28 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
29 abnormality of the hip bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0003272
30 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
31 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
32 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
33 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
34 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
35 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
36 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
37 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
38 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
39 increased number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0011069
40 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
41 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
42 sandal gap 59 32 occasional (7.5%) Occasional (29-5%) HP:0001852
43 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
44 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
45 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
46 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
47 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
48 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
49 split hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0001171
50 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668

MGI Mouse Phenotypes related to Robinow Syndrome, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.1 HPSE LMBR1 NXN ROR2 SALL4 TWIST1

Drugs & Therapeutics for Robinow Syndrome, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Robinow Syndrome, Autosomal Recessive

Genetic Tests for Robinow Syndrome, Autosomal Recessive

Genetic tests related to Robinow Syndrome, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Robinow Syndrome, Autosomal Recessive 29 ROR2

Anatomical Context for Robinow Syndrome, Autosomal Recessive

MalaCards organs/tissues related to Robinow Syndrome, Autosomal Recessive:

41
Bone, Tongue, Kidney, Eye

Publications for Robinow Syndrome, Autosomal Recessive

Articles related to Robinow Syndrome, Autosomal Recessive:

# Title Authors Year
1
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? ( 641945 )
1978

Variations for Robinow Syndrome, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Robinow Syndrome, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 ROR2 p.Arg184Cys VAR_010768 rs121909084
2 ROR2 p.Arg189Trp VAR_010769 rs199975149
3 ROR2 p.Arg366Trp VAR_010770
4 ROR2 p.Asn620Lys VAR_010771
5 ROR2 p.Cys182Tyr VAR_010911

ClinVar genetic disease variations for Robinow Syndrome, Autosomal Recessive:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROR2 NM_004560.3(ROR2): c.1504C> T (p.Gln502Ter) single nucleotide variant Pathogenic rs121909083 GRCh37 Chromosome 9, 94487272: 94487272
2 ROR2 NM_004560.3(ROR2): c.1504C> T (p.Gln502Ter) single nucleotide variant Pathogenic rs121909083 GRCh38 Chromosome 9, 91724990: 91724990
3 ROR2 NM_004560.3(ROR2): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121909084 GRCh37 Chromosome 9, 94499745: 94499745
4 ROR2 NM_004560.3(ROR2): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121909084 GRCh38 Chromosome 9, 91737463: 91737463
5 ROR2 NM_004560.3(ROR2): c.2160G> A (p.Trp720Ter) single nucleotide variant Pathogenic rs121909085 GRCh37 Chromosome 9, 94486616: 94486616
6 ROR2 NM_004560.3(ROR2): c.2160G> A (p.Trp720Ter) single nucleotide variant Pathogenic rs121909085 GRCh38 Chromosome 9, 91724334: 91724334
7 ROR2 NM_004560.3(ROR2): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs121909086 GRCh37 Chromosome 9, 94499682: 94499682
8 ROR2 NM_004560.3(ROR2): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs121909086 GRCh38 Chromosome 9, 91737400: 91737400
9 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh37 Chromosome 9, 94488884: 94488888
10 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh38 Chromosome 9, 91726602: 91726606
11 ROR2 NM_004560.3(ROR2): c.1937_1943delACAAGCT (p.Tyr646Cysfs) deletion Pathogenic rs863223291 GRCh37 Chromosome 9, 94486833: 94486839
12 ROR2 NM_004560.3(ROR2): c.1937_1943delACAAGCT (p.Tyr646Cysfs) deletion Pathogenic rs863223291 GRCh38 Chromosome 9, 91724551: 91724557
13 ROR2 NM_004560.3(ROR2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs121909087 GRCh37 Chromosome 9, 94519662: 94519662
14 ROR2 NM_004560.3(ROR2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs121909087 GRCh38 Chromosome 9, 91757380: 91757380
15 ROR2 NG_008089.1: g.218534_227384del8851 deletion Pathogenic GRCh38 Chromosome 9, 91727779: 91736629
16 ROR2 NG_008089.1: g.218534_227384del8851 deletion Pathogenic GRCh37 Chromosome 9, 94490061: 94498911
17 ROR2 NM_004560.3(ROR2): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic rs267607016 GRCh37 Chromosome 9, 94488885: 94488885
18 ROR2 NM_004560.3(ROR2): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic rs267607016 GRCh38 Chromosome 9, 91726603: 91726603
19 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh37 Chromosome 9, 94485971: 94485971
20 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh38 Chromosome 9, 91723689: 91723689
21 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh37 Chromosome 9, 94486817: 94486817
22 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh38 Chromosome 9, 91724535: 91724535
23 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh37 Chromosome 9, 94493389: 94493389
24 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh38 Chromosome 9, 91731107: 91731107
25 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh37 Chromosome 9, 94712171: 94712171
26 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh38 Chromosome 9, 91949889: 91949889
27 ROR2 NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) insertion Pathogenic rs886042428 GRCh37 Chromosome 9, 94486624: 94486625
28 ROR2 NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) insertion Pathogenic rs886042428 GRCh38 Chromosome 9, 91724342: 91724343

Expression for Robinow Syndrome, Autosomal Recessive

Search GEO for disease gene expression data for Robinow Syndrome, Autosomal Recessive.

Pathways for Robinow Syndrome, Autosomal Recessive

Pathways related to Robinow Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 IARS MT-TY RARS2

GO Terms for Robinow Syndrome, Autosomal Recessive

Cellular components related to Robinow Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.92 HSPD1 MRRF RAD51 RARS2

Biological processes related to Robinow Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.26 IARS MRRF RARS2 RPS12
2 embryonic digit morphogenesis GO:0042733 8.8 LMBR1 ROR2 TWIST1

Sources for Robinow Syndrome, Autosomal Recessive

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
Content
Loading form....