MCID: RBN020
MIFTS: 27

Robinow Syndrome, Autosomal Dominant 3

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

Aliases & Classifications for Robinow Syndrome, Autosomal Dominant 3

Summaries for Robinow Syndrome, Autosomal Dominant 3

OMIM : 57 The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016). For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (268310). (616894)

MalaCards based summary : Robinow Syndrome, Autosomal Dominant 3, also known as drs3, is related to robinow syndrome, autosomal dominant 1. An important gene associated with Robinow Syndrome, Autosomal Dominant 3 is DVL3 (Dishevelled Segment Polarity Protein 3). Affiliated tissues include eye, tongue and heart, and related phenotypes are cryptorchidism and cleft palate

Disease Ontology : 12 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has material basis in heterozygous mutation in the DVL3 gene on chromosome 3q27.

UniProtKB/Swiss-Prot : 75 Robinow syndrome, autosomal dominant 3: A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects.

Related Diseases for Robinow Syndrome, Autosomal Dominant 3

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 Dominant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 robinow syndrome, autosomal dominant 1 9.0 DVL3 TUBA4A

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 3

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
brachydactyly
hypoplastic phalanges (in some patients)
broad thumb (in some patients)

Growth Height:
short stature

Head And Neck Face:
long philtrum
micrognathia
midface hypoplasia
frontal bossing (in some patients)

Cardiovascular Heart:
ventricular septal defect
tricuspid regurgitation
patent foramen ovale
pulmonary atresia
hypoplastic right heart

Head And Neck Eyes:
upslanting palpebral fissures
prominent eyes
hypertelorism (in some patients)
epicanthal folds (in some patients)
long eyelashes (in some patients)
more
Head And Neck Neck:
short neck (in some patients)
webbed neck (in some patients)

Abdomen External Features:
omphalocele (in some patients)

Head And Neck Head:
macrocephaly (in some patients)

Head And Neck Teeth:
malocclusion (in some patients)
missing teeth (in some patients)

Skeletal Feet:
broad first toe (in some patients)

GenitourinaryInternal GenitaliaMale:
cryptorchidism (in 1 patient)

Head And Neck Nose:
wide nasal bridge
short nose
anteverted nares
low nasal bridge

Head And Neck Mouth:
cleft palate
gingival hyperplasia
cleft lip (in some patients)
downturned mouth
bilobed tongue

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Limbs:
mesomelia

Abdomen Gastrointestinal:
anteriorly placed anus (rare)
short gut (rare)

Skeletal Spine:
scoliosis (in some patients)
kyphosis (in some patients)

Head And Neck Ears:
hearing loss (rare)
low-set ears (rare)

Skeletal Skull:
macrocephaly (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus anomaly

Genitourinary External Genitalia Male:
buried penis (in 1 patient)


Clinical features from OMIM:

616894

Human phenotypes related to Robinow Syndrome, Autosomal Dominant 3:

32 (show all 42)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 cleft palate 32 HP:0000175
3 gingival overgrowth 32 HP:0000212
4 macrocephaly 32 occasional (7.5%) HP:0000256
5 epicanthus 32 occasional (7.5%) HP:0000286
6 hypertelorism 32 occasional (7.5%) HP:0000316
7 long philtrum 32 HP:0000343
8 micrognathia 32 HP:0000347
9 hearing impairment 32 occasional (7.5%) HP:0000365
10 low-set ears 32 occasional (7.5%) HP:0000369
11 wide nasal bridge 32 HP:0000431
12 anteverted nares 32 HP:0000463
13 webbed neck 32 occasional (7.5%) HP:0000465
14 short neck 32 occasional (7.5%) HP:0000470
15 telecanthus 32 occasional (7.5%) HP:0000506
16 proptosis 32 HP:0000520
17 long eyelashes 32 occasional (7.5%) HP:0000527
18 upslanted palpebral fissure 32 HP:0000582
19 blue sclerae 32 occasional (7.5%) HP:0000592
20 dental malocclusion 32 occasional (7.5%) HP:0000689
21 brachydactyly 32 HP:0001156
22 anteriorly placed anus 32 occasional (7.5%) HP:0001545
23 ventricular septal defect 32 HP:0001629
24 patent ductus arteriosus 32 HP:0001643
25 patent foramen ovale 32 HP:0001655
26 frontal bossing 32 occasional (7.5%) HP:0002007
27 scoliosis 32 occasional (7.5%) HP:0002650
28 downturned corners of mouth 32 HP:0002714
29 kyphosis 32 occasional (7.5%) HP:0002808
30 mesomelia 32 HP:0003027
31 short nose 32 HP:0003196
32 short stature 32 HP:0004322
33 pulmonary artery atresia 32 HP:0004935
34 tricuspid regurgitation 32 HP:0005180
35 depressed nasal bridge 32 HP:0005280
36 agenesis of permanent teeth 32 occasional (7.5%) HP:0006349
37 short phalanx of finger 32 occasional (7.5%) HP:0009803
38 hypoplastic right heart 32 HP:0010954
39 broad thumb 32 occasional (7.5%) HP:0011304
40 midface retrusion 32 HP:0011800
41 clinodactyly 32 HP:0030084
42 cleft lip 32 occasional (7.5%) HP:0410030

Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 3

Search Clinical Trials , NIH Clinical Center for Robinow Syndrome, Autosomal Dominant 3

Genetic Tests for Robinow Syndrome, Autosomal Dominant 3

Genetic tests related to Robinow Syndrome, Autosomal Dominant 3:

# Genetic test Affiliating Genes
1 Robinow Syndrome, Autosomal Dominant 3 29 DVL3

Anatomical Context for Robinow Syndrome, Autosomal Dominant 3

MalaCards organs/tissues related to Robinow Syndrome, Autosomal Dominant 3:

41
Eye, Tongue, Heart

Publications for Robinow Syndrome, Autosomal Dominant 3

Variations for Robinow Syndrome, Autosomal Dominant 3

ClinVar genetic disease variations for Robinow Syndrome, Autosomal Dominant 3:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DVL3 NM_004423.3(DVL3): c.1585delG (p.Ala529Profs) deletion Pathogenic rs869025215 GRCh37 Chromosome 3, 183887880: 183887880
2 DVL3 NM_004423.3(DVL3): c.1585delG (p.Ala529Profs) deletion Pathogenic rs869025215 GRCh38 Chromosome 3, 184170092: 184170092
3 DVL3 NM_004423.3(DVL3): c.1715-2A> G single nucleotide variant Pathogenic rs869025216 GRCh37 Chromosome 3, 183888105: 183888105
4 DVL3 NM_004423.3(DVL3): c.1715-2A> G single nucleotide variant Pathogenic rs869025216 GRCh38 Chromosome 3, 184170317: 184170317
5 DVL3 NM_004423.3(DVL3): c.1715-1G> A single nucleotide variant Pathogenic rs869025217 GRCh37 Chromosome 3, 183888106: 183888106
6 DVL3 NM_004423.3(DVL3): c.1715-1G> A single nucleotide variant Pathogenic rs869025217 GRCh38 Chromosome 3, 184170318: 184170318
7 DVL3 NM_004423.3(DVL3): c.1716delC (p.Ser573Valfs) deletion Pathogenic rs869025218 GRCh37 Chromosome 3, 183888108: 183888108
8 DVL3 NM_004423.3(DVL3): c.1716delC (p.Ser573Valfs) deletion Pathogenic rs869025218 GRCh38 Chromosome 3, 184170320: 184170320
9 DVL3 NM_004423.3(DVL3): c.1749delC (p.Ser583Argfs) deletion Pathogenic rs869025219 GRCh37 Chromosome 3, 183888141: 183888141
10 DVL3 NM_004423.3(DVL3): c.1749delC (p.Ser583Argfs) deletion Pathogenic rs869025219 GRCh38 Chromosome 3, 184170353: 184170353
11 FZD2 NM_001466.3(FZD2): c.1301G> T (p.Gly434Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 44558989: 44558989
12 FZD2 NM_001466.3(FZD2): c.1301G> T (p.Gly434Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 42636357: 42636357

Expression for Robinow Syndrome, Autosomal Dominant 3

Search GEO for disease gene expression data for Robinow Syndrome, Autosomal Dominant 3.

Pathways for Robinow Syndrome, Autosomal Dominant 3

GO Terms for Robinow Syndrome, Autosomal Dominant 3

Sources for Robinow Syndrome, Autosomal Dominant 3

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