MCID: DBW001
MIFTS: 42

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 57 12 75 53 59 44 15 72
Dubowitz's Syndrome 12 29
Intrauterine Growth Retardation, Short Stature, Microcephaly, Mild Mental Retardation with Behavior Problems, Eczema, and Unusual and Distinctive Faci 53
Dwarfism-Eczema-Peculiar Facies Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
dubowitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
dubowitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:14796
OMIM 57 223370
MeSH 44 C535718
NCIt 50 C125591
SNOMED-CT 68 2593002
ICD10 33 Q87.1
MESH via Orphanet 45 C535718
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 73 C0175691
Orphanet 59 ORPHA235
MedGen 42 C0175691
UMLS 72 C0175691

Summaries for Dubowitz Syndrome

NIH Rare Diseases : 53 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 dyskeratosis congenita and microcephaly. An important gene associated with Dubowitz Syndrome is NSUN2 (NOP2/Sun RNA Methyltransferase 2). Affiliated tissues include eye, testes and bone, 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 : 75 Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a... more...

More information from OMIM: 223370

Related Diseases for Dubowitz Syndrome

Diseases related to Dubowitz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita 29.8 USB1 LIG4 GRHL2
2 microcephaly 10.7
3 dermatitis 10.6
4 autosomal recessive disease 10.5
5 blepharophimosis 10.4
6 ptosis 10.4
7 three m syndrome 1 10.3 OBSL1 CUL7
8 cleft palate, isolated 10.3
9 telecanthus 10.3
10 dwarfism 10.2
11 chromosome 2q35 duplication syndrome 10.2
12 cryptorchidism, unilateral or bilateral 10.2
13 dermatitis, atopic 10.2
14 fetal alcohol syndrome 10.2
15 alcohol-related birth defect 10.2
16 poikiloderma with neutropenia 10.1 USB1 LIG4 GRHL2
17 palatopharyngeal incompetence 10.1
18 bloom syndrome 10.1
19 immune deficiency disease 10.1
20 neuroblastoma 1 10.1
21 scoliosis 10.1
22 growth hormone deficiency 10.1
23 epileptic encephalopathy, early infantile, 1 10.0 TBC1D24 MAF
24 anorectal anomalies 9.9
25 arteries, anomalies of 9.9
26 epicanthus 9.9
27 hypertelorism 9.9
28 hyper-ige recurrent infection syndrome 1, autosomal dominant 9.9
29 pectus excavatum 9.9
30 pilonidal sinus 9.9
31 neural tube defects 9.9
32 strabismus 9.9
33 tetralogy of fallot 9.9
34 microcephalic osteodysplastic primordial dwarfism, type ii 9.9
35 isolated growth hormone deficiency, type ia 9.9
36 smith-lemli-opitz syndrome 9.9
37 opitz gbbb syndrome, type i 9.9
38 carney complex variant 9.9
39 aplastic anemia 9.9
40 chromosome 19q13.11 deletion syndrome, distal 9.9
41 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
42 hyperlipoproteinemia, type iii 9.9
43 deficiency anemia 9.9
44 exanthem 9.9
45 immunoglobulin alpha deficiency 9.9
46 chromosome 19q13.11 deletion syndrome 9.9
47 spina bifida occulta 9.9
48 hyper ige syndrome 9.9
49 thalassemia 9.9
50 hypospadias 9.9

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:

59 32 (show top 50) (show all 116)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 59 32 very rare (1%) Very frequent (99-80%) HP:0001249
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 broad thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0011304
6 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
7 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
8 underdeveloped supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0009891
9 aplasia/hypoplasia of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009601
10 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
11 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
12 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
13 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
14 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
15 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
16 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
17 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
18 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
19 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
20 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
21 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
22 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
23 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
24 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
25 abnormality of the antihelix 59 32 frequent (33%) Frequent (79-30%) HP:0009738
26 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
27 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
28 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
29 recurrent infections 59 32 frequent (33%) Frequent (79-30%) HP:0002719
30 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
31 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
32 low anterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0000294
33 eczema 59 32 frequent (33%) Frequent (79-30%) HP:0000964
34 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
35 wide anterior fontanel 59 32 frequent (33%) Frequent (79-30%) HP:0000260
36 delayed cranial suture closure 59 32 frequent (33%) Frequent (79-30%) HP:0000270
37 sparse lateral eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0005338
38 sloping forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000340
39 abnormality of female external genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000055
40 submucous cleft hard palate 59 32 frequent (33%) Frequent (79-30%) HP:0000176
41 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
42 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
43 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
44 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
45 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
46 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
47 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
48 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
49 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
50 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960

Symptoms via clinical synopsis from OMIM:

57
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
Head And Neck Nose:
broad nasal tip
broad nasal bridge

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

Growth Other:
intrauterine growth retardation
postnatal growth failure

Skin Nails Hair Hair:
sparse scalp hair

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

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Immunology:
recurrent infections
iga deficiency
hypogammaglobulinemia

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

MGI Mouse Phenotypes related to Dubowitz Syndrome:

46
# 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 9.4 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 29

Anatomical Context for Dubowitz Syndrome

MalaCards organs/tissues related to Dubowitz Syndrome:

41
Eye, Testes, Bone, Skin, Heart, Neutrophil, T Cells

Publications for Dubowitz Syndrome

Articles related to Dubowitz Syndrome:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Dubowitz syndrome: a cholesterol metabolism disorder? 38 6 8
18990984 2008
2
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. 38 6 8
8723121 1996
3
Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome. 38 8
10797433 2000
4
Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? 38 8
10508998 1999
5
Dubowitz syndrome: long-term follow-up of an original patient. 38 8
7536394 1995
6
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? 38 8
1552551 1992
7
Chromosomal instability in two siblings with Dubowitz syndrome. 38 8
2043468 1991
8
New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism. 38 8
2248292 1990
9
Dubowitz syndrome: possible evidence for a clinical subtype. 38 8
2185633 1990
10
Fatal aplastic anaemia in a child with features of Dubowitz syndrome. 38 8
3428295 1987
11
A Japanese patient with the Dubowitz syndrome. 38 8
3621642 1987
12
The Dubowitz syndrome. 38 8
3709570 1986
13
The diagnosis of Dubowitz syndrome in the neonatal period--a case report. 38 8
3732320 1986
14
Dubowitz syndrome. 38 8
3950932 1986
15
Aplastic anemia in Dubowitz syndrome. 38 8
4038999 1985
16
The Dubowitz syndrome: a retrospective. 38 8
3877102 1985
17
The Dubowitz syndrome: further observations. 38 8
6258433 1980
18
The Dubowitz syndrome: the psychological status of ten cases at follow-up. 38 8
7190357 1980
19
Brief clinical report: the Dubowitz syndrome in a teenager. 38 8
575467 1979
20
The Dubowitz syndrome. 38 8
263660 1978
21
[Dubowitz syndrome with immunodeficiency and solid malignant tumor in two siblings (author's transl)]. 38 8
917026 1977
22
A rare type of low birthweight dwarfism: the Dubowitz syndrome. 38 8
242126 1975
23
Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations. 38 8
4771703 1973
24
The Dubowitz syndrome. 38 8
5088752 1971
25
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres. 38 6
29696806 2018
26
FAMILIAL LOW BIRTHWEIGHT DWARFISM WITH AN UNUSUAL FACIES AND A SKIN ERUPTION. 8
14296916 1965
27
Anaesthesia and orphan disease: Dubowitz syndrome. 38
31274551 2019
28
Unsolved recognizable patterns of human malformation: Challenges and opportunities. 38
30580485 2018
29
Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research. 38
30580484 2018
30
Spontaneous Keloids: A Literature Review. 38
30114700 2018
31
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature. 38
28464511 2017
32
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. 38
28003643 2017
33
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 38
27612988 2016
34
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome. 38
26377242 2015
35
Dubowitz syndrome and the increased risk of developing malignancies. 38
26009798 2015
36
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. 38
25559542 2015
37
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. 38
24973050 2014
38
Profound T-cell defects in Dubowitz syndrome. 38
24899539 2014
39
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. 38
24892279 2014
40
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 38
23649928 2013
41
Identification of the DNA repair defects in a case of Dubowitz syndrome. 38
23372718 2013
42
Dubowitz syndrome: common findings and peculiar urine odor. 38
24159261 2013
43
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. 38
22577224 2012
44
Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome. 38
23534331 2012
45
Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. 38
21769769 2011
46
Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features. 38
22121397 2011
47
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? 38
21548126 2011
48
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 38
21567902 2011
49
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. 38
23074674 2011
50
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. 38
21272302 2011

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 condensed chromosome GO:0000793 8.96 PES1 LIG4
2 3M complex GO:1990393 8.62 OBSL1 CUL7

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 OBSL1 CUL7
2 cell junction assembly GO:0034329 9.16 GRHL2 ACTG1
3 microtubule cytoskeleton organization GO:0000226 9.13 PCNT OBSL1 CUL7
4 sarcomere organization GO:0045214 8.8 PRKAR1A OBSL1 ACTG1

Sources for Dubowitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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