MCID: DBW001
MIFTS: 41

Dubowitz Syndrome malady

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

Aliases & Classifications for Dubowitz Syndrome

Aliases & Descriptions for Dubowitz Syndrome:

Name: Dubowitz Syndrome 54 12 50 24 56 42 14 69
Intrauterine Growth Retardation, Short Stature, Microcephaly, Mild Mental Retardation with Behavior Problems, Eczema, and Unusual and Distinctive Faci 50
Dwarfism-Eczema-Peculiar Facies Syndrome 50
Dubowitz's Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
dubowitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

HPO:

32
dubowitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 223370
Disease Ontology 12 DOID:14796
ICD10 33 Q87.1
MeSH 42 C535718
SNOMED-CT 64 2593002
Orphanet 56 ORPHA235
MESH via Orphanet 43 C535718
UMLS via Orphanet 70 C0175691
ICD10 via Orphanet 34 Q87.1
UMLS 69 C0175691

Summaries for Dubowitz Syndrome

NIH Rare Diseases : 50 dubowitz syndrome is a very rare genetic and developmental disorder with a range of signs and symptoms. the findings of dubowitz syndrome typically include: growth failure/short stature; characteristic facial features such as a small triangular face, high sloping forehead, drooping eyelid (ptosis), short palpebral fissures (short distance between the inner and outer corner of the eye), broad and flat nasal bridge, smaller than normal head (microcephaly), intellectual disability, and eczema. although the exact genetic cause of dubowitz syndrome has not been identified, the condition is believed to be inherited in an autosomal recessive fashion based on studies of families affected by the syndrome. although there is no specific treatment or cure, there are ways to manage the symptoms. a team of doctors is often needed to figure out the treatment options for each person. last updated: 11/23/2016

MalaCards based summary : Dubowitz Syndrome, also known as intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci, is related to retinitis pigmentosa 48 and dwarfism, and has symptoms including seizures, dry skin and hypertelorism. An important gene associated with Dubowitz Syndrome is LIG4 (DNA Ligase 4), and among its related pathways/superpathways is Ubiquitin mediated proteolysis. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include eye, testes and skin.

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 : 71 Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, growth retardation and a... more...

Description from OMIM: 223370

Related Diseases for Dubowitz Syndrome

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

(show all 23)
id Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 48 10.0 CUL7 OBSL1
2 dwarfism 9.9
3 atopic dermatitis 9.7
4 achalasia 9.7
5 coronary artery disease 9.7
6 aplastic anemia 9.7
7 growth hormone deficiency 9.7
8 bloom syndrome 9.7
9 hyper ige syndrome 9.7
10 microcephalic osteodysplastic primordial dwarfism, type ii 9.7
11 thalassemia major 9.7
12 cataract 9.7
13 keloids 9.7
14 thalassemia 9.7
15 artery disease 9.7
16 scoliosis 9.7
17 blepharophimosis 9.7
18 hypoparathyroidism 9.7
19 dermatitis 9.7
20 embryonal rhabdomyosarcoma 9.7
21 rhabdomyosarcoma 9.7
22 coenzyme q10 deficiency, primary, 5 9.5 GRHL2 LIG4 USB1
23 hemochromatosis, neonatal 8.9 CUL7 GRHL2 LIG4 NSUN2 OBSL1 UBE3B

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



Diseases related to Dubowitz Syndrome

Symptoms & Phenotypes for Dubowitz Syndrome

Symptoms by clinical synopsis from OMIM:

223370

Clinical features from OMIM:

223370

Human phenotypes related to Dubowitz Syndrome:

56 32 (show top 50) (show all 114)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 dry skin 56 32 Occasional (29-5%) HP:0000958
3 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
4 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
5 high palate 56 32 Occasional (29-5%) HP:0000218
6 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
7 ptosis 56 32 Frequent (79-30%) HP:0000508
8 nystagmus 56 32 Occasional (29-5%) HP:0000639
9 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
10 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
11 scoliosis 56 32 Occasional (29-5%) HP:0002650
12 hearing impairment 56 32 Frequent (79-30%) HP:0000365
13 cataract 56 32 Occasional (29-5%) HP:0000518
14 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
15 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
16 malabsorption 56 32 Occasional (29-5%) HP:0002024
17 microcephaly 56 32 Very frequent (99-80%) HP:0000252
18 short stature 56 32 Very frequent (99-80%) HP:0004322
19 broad thumb 56 32 Very frequent (99-80%) HP:0011304
20 anemia 56 32 Occasional (29-5%) HP:0001903
21 micrognathia 56 32 Frequent (79-30%) HP:0000347
22 strabismus 56 32 Occasional (29-5%) HP:0000486
23 delayed eruption of teeth 56 32 Occasional (29-5%) HP:0000684
24 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
25 epicanthus 56 32 Frequent (79-30%) HP:0000286
26 short foot 56 32 Frequent (79-30%) HP:0001773
27 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
28 attention deficit hyperactivity disorder 56 32 Frequent (79-30%) HP:0007018
29 metatarsus adductus 56 32 Occasional (29-5%) HP:0001840
30 abnormality of the fingernails 56 32 Occasional (29-5%) HP:0001231
31 hypoplastic toenails 56 32 Occasional (29-5%) HP:0001800
32 postnatal growth retardation 56 32 Frequent (79-30%) HP:0008897
33 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
34 protruding ear 56 32 Frequent (79-30%) HP:0000411
35 hypoparathyroidism 56 32 Occasional (29-5%) HP:0000829
36 telecanthus 56 32 Very frequent (99-80%) HP:0000506
37 myopia 56 32 Occasional (29-5%) HP:0000545
38 wide mouth 56 32 Occasional (29-5%) HP:0000154
39 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
40 hypospadias 56 32 Frequent (79-30%) HP:0000047
41 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
42 small hand 56 32 Frequent (79-30%) HP:0200055
43 abnormality of the antihelix 56 32 Frequent (79-30%) HP:0009738
44 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
45 narrow face 56 32 Frequent (79-30%) HP:0000275
46 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
47 sandal gap 56 32 Frequent (79-30%) HP:0001852
48 asthma 56 32 Occasional (29-5%) HP:0002099
49 recurrent infections 56 32 Frequent (79-30%) HP:0002719
50 sparse scalp hair 56 32 Frequent (79-30%) HP:0002209

Drugs & Therapeutics for Dubowitz Syndrome

Drugs for Dubowitz Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 Survey of Current Management of Orthopaedic Complications in CMT Patients Completed NCT02001038
2 Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611) Recruiting NCT02979145

Search NIH Clinical Center for Dubowitz Syndrome

Cochrane evidence based reviews: dubowitz syndrome

Genetic Tests for Dubowitz Syndrome

Genetic tests related to Dubowitz Syndrome:

id Genetic test Affiliating Genes
1 Dubowitz Syndrome 24

Anatomical Context for Dubowitz Syndrome

MalaCards organs/tissues related to Dubowitz Syndrome:

39
Eye, Testes, Skin, Neutrophil, Heart, T Cells

Publications for Dubowitz Syndrome

Articles related to Dubowitz Syndrome:

(show top 50) (show all 59)
id Title Authors Year
1
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome. ( 26377242 )
2015
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
Profound T-cell defects in Dubowitz syndrome. ( 24899539 )
2014
5
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. ( 24892279 )
2014
6
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. ( 24973050 )
2014
7
Dubowitz syndrome: common findings and peculiar urine odor. ( 24159261 )
2013
8
Identification of the DNA repair defects in a case of Dubowitz syndrome. ( 23372718 )
2013
9
Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome. ( 23534331 )
2012
10
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. ( 23074674 )
2011
11
Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features. ( 22121397 )
2011
12
Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. ( 21769769 )
2011
13
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. ( 21272302 )
2011
14
A case report of Dubowitz syndrome accompanied by congenital anal atresia. ( 20618476 )
2010
15
Anesthesia of a patient with Dubowitz syndrome -A case report-. ( 20532061 )
2010
16
Coronary artery disease: a new manifestation in Dubowitz syndrome. ( 19330756 )
2009
17
Thalassemia major in a child with Dubowitz syndrome. ( 18816807 )
2009
18
Dubowitz syndrome: a cholesterol metabolism disorder? ( 18990984 )
2008
19
Association between nasal polyposis, Dubowitz syndrome and hyper-IgE syndrome. ( 18329728 )
2008
20
Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q. ( 17375538 )
2006
21
What syndrome is this? Dubowitz syndrome. ( 16191007 )
2005
22
Dubowitz syndrome: report of a case with emphasis on the oral features. ( 16568913 )
2005
23
Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: a new variant of Dubowitz syndrome? ( 16152634 )
2005
24
Cranial midline abnormalities in Dubowitz syndrome: MR imaging findings. ( 12695828 )
2003
25
Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review. ( 12686766 )
2003
26
Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome. ( 10797433 )
2000
27
Sudden development of bilateral cataract in a child with Dubowitz syndrome: a case report. ( 11761556 )
2000
28
Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? ( 10508998 )
1999
29
Ophthalmologic findings in the Dubowitz syndrome. ( 9972513 )
1999
30
Dubowitz syndrome and achalasia: two rare conditions in a child. ( 9545609 )
1998
31
Atopic eczema in monozygotic twins with Dubowitz syndrome. ( 9747384 )
1998
32
Dubowitz syndrome in a boy without developmental delay: further evidence for phenotypic variability. ( 9028461 )
1997
33
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. ( 8723121 )
1996
34
Facial asymmetry, cardio-vascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome? ( 9297441 )
1996
35
Growth hormone deficiency in Dubowitz syndrome. ( 8741320 )
1996
36
Dubowitz syndrome: long-term follow-up of an original patient. ( 7536394 )
1995
37
Ichthyosiform eruption in a patient with Dubowitz syndrome. ( 7659638 )
1995
38
Progressive scoliosis in Dubowitz syndrome. ( 8553122 )
1995
39
Dubowitz syndrome with keloidal lesions. ( 7955507 )
1994
40
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? ( 1552551 )
1992
41
Chromosomal instability in two siblings with Dubowitz syndrome. ( 2043468 )
1991
42
New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism. ( 2248292 )
1990
43
Dubowitz syndrome: possible evidence for a clinical subtype. ( 2185633 )
1990
44
Dubowitz syndrome: atopic dermatitis, low birth weight dwarfism and facial dysmorphism. ( 2358105 )
1990
45
A Japanese patient with the Dubowitz syndrome. ( 3621642 )
1987
46
The Dubowitz syndrome--one more case. ( 3316825 )
1987
47
Fatal aplastic anaemia in a child with features of Dubowitz syndrome. ( 3428295 )
1987
48
Dubowitz syndrome. ( 3730185 )
1986
49
The Dubowitz syndrome. ( 3709570 )
1986
50
The diagnosis of Dubowitz syndrome in the neonatal period--a case report. ( 3732320 )
1986

Variations for Dubowitz Syndrome

Expression for Dubowitz Syndrome

Search GEO for disease gene expression data for Dubowitz Syndrome.

Pathways for Dubowitz Syndrome

Pathways related to Dubowitz Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.76 CUL7 UBE3B

GO Terms for Dubowitz Syndrome

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 Golgi organization GO:0007030 9.26 CUL7 OBSL1
2 microtubule cytoskeleton organization GO:0000226 9.16 CUL7 OBSL1
3 regulation of mitotic nuclear division GO:0007088 8.96 CUL7 OBSL1
4 positive regulation of dendrite morphogenesis GO:0050775 8.62 CUL7 OBSL1

Sources for Dubowitz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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