MCID: RBN009
MIFTS: 42

Robinow Syndrome, Autosomal Recessive

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

Aliases & Classifications for Robinow Syndrome, Autosomal Recessive

MalaCards integrated aliases for Robinow Syndrome, Autosomal Recessive:

Name: Robinow Syndrome, Autosomal Recessive 53 28 13 51 69
Covesdem Syndrome 12 72 55 71
Rrs 53 12 55 71
Autosomal Recessive Robinow Syndrome 12 55 14
Costovertebral Segmentation Defect-Mesomelia Syndrome 12 55
Robinow Syndrome Autosomal Recessive with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals 71
Robinow Syndrome Autosomal Recessive with Brachy-Syn-Polydactyly 71
Costovertebral Segmentation Defect with Mesomelia, Formerly 53
Costovertebral Segmentation Defect with Mesomelia 71
Robinow Syndrome Autosomal Recessive 71
Covesdem Syndrome, Formerly 53

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive robinow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
robinow syndrome, autosomal recessive:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Robinow Syndrome, Autosomal Recessive

UniProtKB/Swiss-Prot : 71 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, and has symptoms including macrocephaly, hypertelorism and short neck. An important gene associated with Robinow Syndrome, Autosomal Recessive is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2). Affiliated tissues include bone, tongue and kidney.

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.

OMIM : 53 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)

Wikipedia : 72 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 Robinow-Like Syndrome

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome 24.7 BCL2A1 HPSE INHA LMBR1 MRRF MT-TY
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 long qt syndrome 10.0
12 ayme-gripp syndrome 9.9
13 mesomelia 9.9
14 leprosy 3 9.9
15 ventricular fibrillation, paroxysmal familial, 1 9.9
16 mycobacterium tuberculosis 1 9.9
17 israeli tick typhus 9.8 HPSE PLEKHG4
18 interstitial emphysema 9.8 SLC22A4 TWIST1
19 amelogenesis imperfecta, type ig 9.7 HPSE LMBR1 PTCHD3
20 colorectal cancer 9.7
21 cataract 5, multiple types 9.7
22 multiple sclerosis 9.7
23 neural tube defects 9.7
24 myeloma, multiple 9.7
25 pancreatic cancer 9.7
26 mental retardation, x-linked, syndromic, snyder-robinson type 9.7
27 orthostatic intolerance 9.7
28 myocardial infarction 9.7
29 acute myocardial infarction 9.7
30 neutropenia 9.7
31 asymptomatic dengue 9.7
32 atrial fibrillation 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 relapsing-remitting multiple sclerosis 9.7
40 retinitis 9.7
41 hyperglycemia 9.7
42 pancreatitis 9.7
43 neuropathy 9.7
44 systolic heart failure 9.7
45 baroreflex failure 9.7
46 dysautonomia 9.7

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:

53
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 RibsSternum 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%)

Genitourinary Internal Genitalia Male:
cryptorchidism (67%)

Skin Nails Hair Nails:
nail dysplasia (35%)


Clinical features from OMIM:

268310

Human phenotypes related to Robinow Syndrome, Autosomal Recessive:

55 31 (show top 50) (show all 119)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 short neck 55 31 very rare (1%) Occasional (29-5%) HP:0000470
4 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
5 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
6 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
7 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
8 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
9 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
10 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
11 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
12 gingival overgrowth 55 31 frequent (33%) Frequent (79-30%) HP:0000212
13 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
14 chronic otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000389
15 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
16 depressed nasal bridge 55 31 very rare (1%) Frequent (79-30%) HP:0005280
17 open bite 55 31 hallmark (90%) Very frequent (99-80%) HP:0010807
18 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
19 pectus carinatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000768
20 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
21 short nose 55 31 very rare (1%) Very frequent (99-80%) HP:0003196
22 anteverted nares 55 31 very rare (1%) Very frequent (99-80%) HP:0000463
23 broad hallux phalanx 55 31 frequent (33%) Frequent (79-30%) HP:0010059
24 broad thumb 55 31 frequent (33%) Frequent (79-30%) HP:0011304
25 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
26 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
27 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
28 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
29 abnormality of the hip bone 55 31 occasional (7.5%) Occasional (29-5%) HP:0003272
30 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
31 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
32 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
33 wide mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000154
34 short philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000322
35 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
36 multicystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000003
37 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
38 downslanted palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0000494
39 increased number of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0011069
40 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
41 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
42 sandal gap 55 31 occasional (7.5%) Occasional (29-5%) HP:0001852
43 downturned corners of mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0002714
44 bilateral single transverse palmar creases 55 31 occasional (7.5%) Occasional (29-5%) HP:0007598
45 elbow dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0003042
46 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
47 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
48 hypoplasia of penis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008736
49 split hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0001171
50 hypodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000668

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 28 ROR2

Anatomical Context for Robinow Syndrome, Autosomal Recessive

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

38
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:

71
# 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
# 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.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121909084 GRCh37 Chromosome 9, 94499745: 94499745
3 ROR2 NM_004560.3(ROR2): c.2160G> A (p.Trp720Ter) single nucleotide variant Pathogenic rs121909085 GRCh37 Chromosome 9, 94486616: 94486616
4 ROR2 NM_004560.3(ROR2): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs121909086 GRCh37 Chromosome 9, 94499682: 94499682
5 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh37 Chromosome 9, 94488884: 94488888
6 ROR2 NM_004560.3(ROR2): c.1937_1943delACAAGCT (p.Tyr646Cysfs) deletion Pathogenic rs863223291 GRCh37 Chromosome 9, 94486833: 94486839
7 ROR2 NM_004560.3(ROR2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs121909087 GRCh37 Chromosome 9, 94519662: 94519662
8 ROR2 NG_008089.1: g.218534_227384del8851 deletion Pathogenic GRCh38 Chromosome 9, 91727779: 91736629
9 ROR2 NM_004560.3(ROR2): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic rs267607016 GRCh37 Chromosome 9, 94488885: 94488885
10 ROR2 NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) insertion Pathogenic rs886042428 GRCh37 Chromosome 9, 94486624: 94486625

Expression for Robinow Syndrome, Autosomal Recessive

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

Pathways for Robinow Syndrome, Autosomal Recessive

GO Terms for Robinow Syndrome, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 SMAD protein signal transduction GO:0060395 8.96 INHA ROR2
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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