MCID: DBW001
MIFTS: 46

Dubowitz Syndrome

Categories: Cancer diseases, Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dubowitz Syndrome

MalaCards integrated aliases for Dubowitz Syndrome:

Name: Dubowitz Syndrome 58 12 77 54 60 45 15 74
Dubowitz's Syndrome 12 30
Intrauterine Growth Retardation, Short Stature, Microcephaly, Mild Mental Retardation with Behavior Problems, Eczema, and Unusual and Distinctive Faci 54
Dwarfism-Eczema-Peculiar Facies Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
dubowitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
dubowitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dubowitz Syndrome

NIH Rare Diseases : 54 Dubowitz syndrome is a very rare genetic and developmental disorder with a broad  range of signs and symptoms. The typical findings of Dubowitz syndrome include  growth failure/short stature, characteristic facial features such as a small triangular face, high sloping forehead, drooping eyelid (ptosis), short eyelids, increased distance between eyes (hypertelorism) broad and flat nasal bridge with a prominent and rounded nasal tip, smaller than normal head (microcephaly), intellectual disability, and eczema, especially on the face and behind the knees. Other common findings are behavioral disorders (hyperactivity, and/or autistic features), speech alterations, scanty or absent hair, foot abnormalities, delayed bone age, bone defects of the lower part of the spine (sacrum and coccyx), testicles that are still not located in the scrotum (cryptorchidism), memory and / or learning problems. There may be an increased risk of having cancer such as leukemia, or lymphoma. The diagnosis is made based on the symptoms (specially the facial features), but there is no specific laboratory test. The cause is still unknown, but, some people who are diagnosed with the syndrome may have variants (mutations) in the NSUN2 and LIG4 genes, or  have loss or gain of microscopic material in some chromosomes (chromosomal microdeletions or microduplications).  Although there is no specific treatment or cure, there are ways to control the symptoms. Often a team of doctors is needed to determine the treatment options for each person.

MalaCards based summary : Dubowitz Syndrome, also known as dubowitz's syndrome, is related to three m syndrome 1 and dwarfism. An important gene associated with Dubowitz Syndrome is NSUN2 (NOP2/Sun RNA Methyltransferase 2). Affiliated tissues include bone, eye and testes, and related phenotypes are hypertelorism and intellectual disability

Disease Ontology : 12 A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.

Wikipedia : 77 Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a... more...

Description from OMIM: 223370

Related Diseases for Dubowitz Syndrome

Graphical network of the top 20 diseases related to Dubowitz Syndrome:



Diseases related to Dubowitz Syndrome

Symptoms & Phenotypes for Dubowitz Syndrome

Human phenotypes related to Dubowitz Syndrome:

60 33 (show top 50) (show all 116)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 60 33 very rare (1%) Very frequent (99-80%) HP:0001249
3 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 broad thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0011304
6 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
7 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
8 aplasia/hypoplasia of the thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009601
9 underdeveloped supraorbital ridges 60 33 hallmark (90%) Very frequent (99-80%) HP:0009891
10 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
11 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
12 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
13 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
14 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
15 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
16 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
17 short foot 60 33 frequent (33%) Frequent (79-30%) HP:0001773
18 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
19 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
20 postnatal growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0008897
21 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
22 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
23 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
24 small hand 60 33 frequent (33%) Frequent (79-30%) HP:0200055
25 abnormality of the antihelix 60 33 frequent (33%) Frequent (79-30%) HP:0009738
26 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
27 narrow face 60 33 frequent (33%) Frequent (79-30%) HP:0000275
28 sandal gap 60 33 frequent (33%) Frequent (79-30%) HP:0001852
29 recurrent infections 60 33 frequent (33%) Frequent (79-30%) HP:0002719
30 sparse scalp hair 60 33 frequent (33%) Frequent (79-30%) HP:0002209
31 fine hair 60 33 frequent (33%) Frequent (79-30%) HP:0002213
32 low anterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0000294
33 eczema 60 33 frequent (33%) Frequent (79-30%) HP:0000964
34 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
35 wide anterior fontanel 60 33 frequent (33%) Frequent (79-30%) HP:0000260
36 sparse lateral eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0005338
37 sloping forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000340
38 abnormality of female external genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000055
39 submucous cleft hard palate 60 33 frequent (33%) Frequent (79-30%) HP:0000176
40 delayed cranial suture closure 60 33 frequent (33%) Frequent (79-30%) HP:0000270
41 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
42 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
43 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
44 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
45 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
46 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
47 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
48 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
49 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
50 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
otitis media
dysplastic ears
prominent ears

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Head And Neck Head:
microcephaly
average birth head circumference 30.6cm

Head And Neck Face:
micrognathia
facial asymmetry
small face
elongation of face with age
shallow supraorbital ridge
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
broad nasal tip
broad nasal bridge

Skin Nails Hair Hair:
sparse scalp hair

Neurologic Central Nervous System:
hyperactivity
hypotonia
speech delay
mental retardation, moderate to severe (10-15% of patients)

Neurologic Behavioral Psychiatric Manifestations:
short attention span

Skeletal:
delayed bone age

Head And Neck Teeth:
caries
missing teeth
delayed eruption

Growth Weight:
average birth weight 2.3kg

Head And Neck Eyes:
ptosis
strabismus
megalocornea
telecanthus
microphthalmia
more
Skeletal Feet:
pes planus
two-three toe syndactyly

Abdomen Gastrointestinal:
gastroesophageal reflux
chronic diarrhea
poor feeding
frequent vomiting

Neoplasia:
aplastic anemia
lymphoma
neuroblastoma
acute lymphatic leukemia

Growth Other:
intrauterine growth retardation
postnatal growth failure

Immunology:
recurrent infections
iga deficiency
hypogammaglobulinemia

Skin Nails Hair Skin:
sacral dimple
eczema (face and flexural areas)

Head And Neck Mouth:
velopharyngeal insufficiency
high-arched palate
submucous cleft palate

Skeletal Hands:
fifth finger clinodactyly

Voice:
high-pitched voice

Growth Height:
average birth length 44cm

Clinical features from OMIM:

223370

GenomeRNAi Phenotypes related to Dubowitz Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 9.02 BPTF IGFBP2 NSUN2 PSMD12 UBE3B

MGI Mouse Phenotypes related to Dubowitz Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.65 ACTG1 BPTF CUL7 FKTN GRHL2 LIG4
2 mortality/aging MP:0010768 9.36 ACTG1 BPTF CUL7 FKTN GRHL2 LIG4

Drugs & Therapeutics for Dubowitz Syndrome

Search Clinical Trials , NIH Clinical Center for Dubowitz Syndrome

Cochrane evidence based reviews: dubowitz syndrome

Genetic Tests for Dubowitz Syndrome

Genetic tests related to Dubowitz Syndrome:

# Genetic test Affiliating Genes
1 Dubowitz's Syndrome 30

Anatomical Context for Dubowitz Syndrome

MalaCards organs/tissues related to Dubowitz Syndrome:

42
Bone, Eye, Testes, Skin, Neutrophil, Heart, T Cells

Publications for Dubowitz Syndrome

Articles related to Dubowitz Syndrome:

(show top 50) (show all 61)
# Title Authors Year
1
Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research. ( 30580484 )
2018
2
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. ( 25559542 )
2015
3
Dubowitz syndrome and the increased risk of developing malignancies. ( 26009798 )
2015
4
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome. ( 26377242 )
2015
5
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. ( 24892279 )
2014
6
Profound T-cell defects in Dubowitz syndrome. ( 24899539 )
2014
7
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. ( 24973050 )
2014
8
Identification of the DNA repair defects in a case of Dubowitz syndrome. ( 23372718 )
2013
9
Dubowitz syndrome: common findings and peculiar urine odor. ( 24159261 )
2013
10
Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome. ( 23534331 )
2012
11
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. ( 21272302 )
2011
12
Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. ( 21769769 )
2011
13
Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features. ( 22121397 )
2011
14
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. ( 23074674 )
2011
15
Anesthesia of a patient with Dubowitz syndrome -A case report-. ( 20532061 )
2010
16
A case report of Dubowitz syndrome accompanied by congenital anal atresia. ( 20618476 )
2010
17
Thalassemia major in a child with Dubowitz syndrome. ( 18816807 )
2009
18
Coronary artery disease: a new manifestation in Dubowitz syndrome. ( 19330756 )
2009
19
Association between nasal polyposis, Dubowitz syndrome and hyper-IgE syndrome. ( 18329728 )
2008
20
Dubowitz syndrome: a cholesterol metabolism disorder? ( 18990984 )
2008
21
Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q. ( 17375538 )
2006
22
Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: a new variant of Dubowitz syndrome? ( 16152634 )
2005
23
What syndrome is this? Dubowitz syndrome. ( 16191007 )
2005
24
Dubowitz syndrome: report of a case with emphasis on the oral features. ( 16568913 )
2005
25
Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review. ( 12686766 )
2003
26
Cranial midline abnormalities in Dubowitz syndrome: MR imaging findings. ( 12695828 )
2003
27
Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome. ( 10797433 )
2000
28
Sudden development of bilateral cataract in a child with Dubowitz syndrome: a case report. ( 11761556 )
2000
29
Ophthalmologic findings in the Dubowitz syndrome. ( 9972513 )
1999
30
Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? ( 10508998 )
1999
31
Dubowitz syndrome and achalasia: two rare conditions in a child. ( 9545609 )
1998
32
Atopic eczema in monozygotic twins with Dubowitz syndrome. ( 9747384 )
1998
33
Dubowitz syndrome in a boy without developmental delay: further evidence for phenotypic variability. ( 9028461 )
1997
34
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. ( 8723121 )
1996
35
Growth hormone deficiency in Dubowitz syndrome. ( 8741320 )
1996
36
Facial asymmetry, cardio-vascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome? ( 9297441 )
1996
37
Dubowitz syndrome: long-term follow-up of an original patient. ( 7536394 )
1995
38
Ichthyosiform eruption in a patient with Dubowitz syndrome. ( 7659638 )
1995
39
Progressive scoliosis in Dubowitz syndrome. ( 8553122 )
1995
40
Dubowitz syndrome with keloidal lesions. ( 7955507 )
1994
41
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? ( 1552551 )
1992
42
Chromosomal instability in two siblings with Dubowitz syndrome. ( 2043468 )
1991
43
Dubowitz syndrome: possible evidence for a clinical subtype. ( 2185633 )
1990
44
New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism. ( 2248292 )
1990
45
Dubowitz syndrome: atopic dermatitis, low birth weight dwarfism and facial dysmorphism. ( 2358105 )
1990
46
The Dubowitz syndrome--one more case. ( 3316825 )
1987
47
Fatal aplastic anaemia in a child with features of Dubowitz syndrome. ( 3428295 )
1987
48
A Japanese patient with the Dubowitz syndrome. ( 3621642 )
1987
49
The Dubowitz syndrome. ( 3709570 )
1986
50
Dubowitz syndrome. ( 3730185 )
1986

Variations for Dubowitz Syndrome

Expression for Dubowitz Syndrome

Search GEO for disease gene expression data for Dubowitz Syndrome.

Pathways for Dubowitz Syndrome

GO Terms for Dubowitz Syndrome

Cellular components related to Dubowitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3M complex GO:1990393 8.62 CUL7 OBSL1

Biological processes related to Dubowitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of dendrite morphogenesis GO:0050775 9.26 CUL7 OBSL1
2 cell junction assembly GO:0034329 9.16 ACTG1 GRHL2
3 microtubule cytoskeleton organization GO:0000226 9.13 CUL7 OBSL1 PCNT
4 sarcomere organization GO:0045214 8.8 ACTG1 OBSL1 PRKAR1A

Sources for Dubowitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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