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 : 53 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, and has symptoms including macrocephaly, hypertelorism and low-set ears. An important gene associated with Robinow Syndrome, Autosomal Dominant 3 is DVL3 (Dishevelled Segment Polarity Protein 3). Affiliated tissues include eye, heart and tongue.

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 : 71 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 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 9.4 DVL3 TUBA4A

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 3

Symptoms via clinical synopsis from OMIM:

53
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)

Genitourinary Internal Genitalia Male:
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 Gastroin testinal:
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 RibsSternum 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:

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

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 28 DVL3

Anatomical Context for Robinow Syndrome, Autosomal Dominant 3

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

38
Eye, Heart, Tongue

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
# 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.1715-2A> G single nucleotide variant Pathogenic rs869025216 GRCh37 Chromosome 3, 183888105: 183888105
3 DVL3 NM_004423.3(DVL3): c.1715-1G> A single nucleotide variant Pathogenic rs869025217 GRCh37 Chromosome 3, 183888106: 183888106
4 DVL3 NM_004423.3(DVL3): c.1716delC (p.Ser573Valfs) deletion Pathogenic rs869025218 GRCh37 Chromosome 3, 183888108: 183888108
5 DVL3 NM_004423.3(DVL3): c.1749delC (p.Ser583Argfs) deletion Pathogenic rs869025219 GRCh37 Chromosome 3, 183888141: 183888141
6 FZD2 NM_001466.3(FZD2): c.1301G> T (p.Gly434Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 44558989: 44558989

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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67 TGDB
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70 UMLS via Orphanet
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