MCID: RBN009
MIFTS: 41

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 54 24 29 13 52 69
Autosomal Recessive Robinow Syndrome 12 56 14
Covesdem Syndrome 12 56 71
Rrs 12 56 71
Costovertebral Segmentation Defect-Mesomelia Syndrome 12 56
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 71
Robinow Syndrome Autosomal Recessive 71
Ror2-Related Robinow Syndrome 24
Fetal Face Syndrome 24

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive robinow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 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 autosomal recessive robinow syndrome, is related to ror2-related robinow syndrome and richards-rundle syndrome, and has symptoms including scoliosis, long eyelashes and recurrent respiratory infections. 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.

OMIM : 54
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.

Related Diseases for Robinow Syndrome, Autosomal Recessive

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 1
Robinow Syndrome, Autosomal Dominant 3 Robinow Syndrome, Autosomal Recessive
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 41)
id Related Disease Score Top Affiliating Genes
1 ror2-related robinow syndrome 12.2
2 richards-rundle syndrome 10.8
3 uv-sensitive syndrome 1 10.7
4 robinow syndrome, autosomal dominant 2 10.7
5 chaotic atrial tachycardia 10.7
6 robinow syndrome, autosomal dominant 1 10.7
7 robinow syndrome, autosomal dominant 3 10.7
8 uv-sensitive syndrome 3 10.7
9 uv-sensitive syndrome 2 10.7
10 hyperlucent lung 10.1 SLC22A4 TWIST1
11 robinow syndrome 9.9
12 long qt syndrome 9.9
13 mesomelia 9.8
14 stankiewicz-isidor syndrome 9.8 LMBR1 PTCHD3
15 flinders island spotted fever 9.8 HPSE PLEKHG4
16 tuberculosis 9.8
17 leprosy 9.8
18 relapsing-remitting multiple sclerosis 9.6
19 multiple myeloma 9.6
20 orthostatic intolerance 9.6
21 retinitis 9.6
22 pancreatic cancer 9.6
23 hiv-1 9.6
24 hyperglycemia 9.6
25 pancreatitis 9.6
26 acute myocardial infarction 9.6
27 neuropathy 9.6
28 neutropenia 9.6
29 asymptomatic dengue 9.6
30 baroreflex failure 9.6
31 colorectal cancer 9.6
32 myocardial infarction 9.6
33 borderline leprosy 9.6
34 common cold 9.6
35 dysautonomia 9.6
36 microphthalmia 9.6
37 diabetic autonomic neuropathy 9.6
38 autonomic neuropathy 9.6
39 cholera 9.6
40 renal-hepatic-pancreatic dysplasia 7.3 BCL2A1 HPSE INHA LMBR1 MRRF PLEKHG4
41 loeys-dietz syndrome 1 5.4 BCL2A1 HPSE INHA LMBR1 MRRF MT-TY

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:

54

Head And Neck- Mouth:
macroglossia
absent uvula
downturned mouth corners (95%)
triangular mouth (86%)
thin upper lip (29%)
more
Abdomen- External Features:
umbilical hernia
abnormal umbilicus

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

Genitourinary- Kidneys:
hydronephrosis
renal duplication (10%)

Head And Neck- Face:
flat facial profile
frontal bossing (78%)
long philtrum (39%)
micrognathia (68%)
retrognathia (37%)
more
Cardiovascular- Heart:
right ventricular outlet obstruction

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

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

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

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%)

Skeletal:
delayed bone age

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

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

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

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

Skeletal- Hands:
brachymesophalangism v
bifid terminal phalanges
small hands (84%)
brachydactyly (91%)
clinodactyly (88%)
more
Skin Nails & Hair- Skin:
nevus flammeus

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

Head And Neck- Teeth:
crowded teeth (94%)
delayed eruption of secondary teeth

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:

56 32 (show top 50) (show all 119)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 long eyelashes 56 32 very rare (1%) Frequent (79-30%) HP:0000527
3 recurrent respiratory infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002205
4 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
5 wide mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000154
6 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
7 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
8 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
9 depressed nasal bridge 56 32 very rare (1%) Frequent (79-30%) HP:0005280
10 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
11 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
12 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
13 alopecia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001596
14 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
15 short nose 56 32 very rare (1%) Very frequent (99-80%) HP:0003196
16 anteverted nares 56 32 very rare (1%) Very frequent (99-80%) HP:0000463
17 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
18 pectus carinatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000768
19 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
20 elbow dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0003042
21 short neck 56 32 very rare (1%) Occasional (29-5%) HP:0000470
22 short philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000322
23 macrocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000256
24 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
25 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
26 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
27 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
28 long philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000343
29 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
30 pectus excavatum 56 32 frequent (33%) Frequent (79-30%) HP:0000767
31 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
32 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
33 hypodontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000668
34 midface retrusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0011800
35 downslanted palpebral fissures 56 32 occasional (7.5%) Occasional (29-5%) HP:0000494
36 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
37 mesomelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003027
38 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
39 sandal gap 56 32 occasional (7.5%) Occasional (29-5%) HP:0001852
40 downturned corners of mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0002714
41 blue sclerae 56 32 occasional (7.5%) Occasional (29-5%) HP:0000592
42 nevus flammeus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001052
43 sacral dimple 56 32 occasional (7.5%) Occasional (29-5%) HP:0000960
44 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
45 chronic otitis media 56 32 frequent (33%) Frequent (79-30%) HP:0000389
46 open bite 56 32 hallmark (90%) Very frequent (99-80%) HP:0010807
47 split hand 56 32 occasional (7.5%) Occasional (29-5%) HP:0001171
48 broad thumb 56 32 frequent (33%) Frequent (79-30%) HP:0011304
49 ectopic anus 56 32 occasional (7.5%) Occasional (29-5%) HP:0004397
50 ankyloglossia 56 32 frequent (33%) Frequent (79-30%) HP:0010296

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:

id Genetic test Affiliating Genes
1 Robinow Syndrome, Autosomal Recessive 29 24 ROR2

Anatomical Context for Robinow Syndrome, Autosomal Recessive

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

39
Bone, Tongue, Kidney, Eye

Publications for Robinow Syndrome, Autosomal Recessive

Variations for Robinow Syndrome, Autosomal Recessive

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

71
id 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
id 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:

id 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
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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