MCID: DBW001
MIFTS: 44

Dubowitz Syndrome

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

Aliases & Classifications for Dubowitz Syndrome

MalaCards integrated aliases 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;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
dubowitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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 dwarfism and cone dystrophy-3, and has symptoms including short stature, scoliosis and sparse scalp hair. An important gene associated with Dubowitz Syndrome is LIG4 (DNA Ligase 4). The drugs Menthol and 4-des-dimethylaminotetracycline have 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 : 72 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 24)
id Related Disease Score Top Affiliating Genes
1 dwarfism 9.9
2 cone dystrophy-3 9.9 CUL7 OBSL1
3 thalassemia 9.7
4 artery disease 9.7
5 scoliosis 9.7
6 blepharophimosis 9.7
7 hypoparathyroidism 9.7
8 dermatitis 9.7
9 embryonal rhabdomyosarcoma 9.7
10 rhabdomyosarcoma 9.7
11 atopic dermatitis 9.7
12 achalasia 9.7
13 coronary artery disease 9.7
14 aplastic anemia 9.7
15 growth hormone deficiency 9.7
16 bloom syndrome 9.7
17 hyper ige syndrome 9.7
18 microcephalic osteodysplastic primordial dwarfism, type ii 9.7
19 thalassemia major 9.7
20 cataract 9.7
21 keloids 9.7
22 anisomastia 9.2 GRHL2 LIG4 USB1
23 skin atrophy 9.0 GRHL2 LIG4 USB1
24 hemochromatosis, neonatal 7.1 CUL7 GRHL2 LIG4 NSUN2 OBSL1 PLXNA1

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



Diseases related to Dubowitz Syndrome

Symptoms & Phenotypes for Dubowitz Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Skeletal:
delayed bone age

Immunology:
recurrent infections
hypogammaglobulinemia
iga deficiency

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

Abdomen- Gastroin testinal:
poor feeding
gastroesophageal reflux
chronic diarrhea
frequent vomiting

Growth- Other:
intrauterine growth retardation
postnatal growth failure

Genitourinary- Internal Genitalia Male:
cryptorchidism

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

Skeletal- Feet:
pes planus
two-three toe syndactyly

Voice:
high-pitched voice

Neurologic- Behavioral Psychiatric Manifestations:
short attention span

Growth- Weight:
average birth weight 2.3kg

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

Skin Nails & Hair- Hair:
sparse scalp hair

Head And Neck- Eyes:
strabismus
tapetoretinal degeneration
ptosis
epicanthal folds
short palpebral fissures
more
Head And Neck- Ears:
low-set ears
dysplastic ears
prominent ears
otitis media

Head And Neck- Face:
micrognathia
high, sloping forehead
facial asymmetry
small face
elongation of face with age
more
Genitourinary- External Genitalia Male:
hypospadias
inguinal hernia

Skeletal- Hands:
fifth finger clinodactyly

Head And Neck- Teeth:
caries
delayed eruption
missing teeth

Neoplasia:
neuroblastoma
lymphoma
aplastic anemia
acute lymphatic leukemia

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

Growth- Height:
average birth length 44cm


Clinical features from OMIM:

223370

Human phenotypes related to Dubowitz Syndrome:

56 32 (show top 50) (show all 115)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 sparse scalp hair 56 32 frequent (33%) Frequent (79-30%) HP:0002209
4 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 recurrent infections 56 32 frequent (33%) Frequent (79-30%) HP:0002719
6 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
7 wide mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000154
8 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
9 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
10 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
11 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
12 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
13 thrombocytopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001873
14 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
15 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
16 depressed nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0005280
17 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
18 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
19 hypospadias 56 32 frequent (33%) Frequent (79-30%) HP:0000047
20 sloping forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000340
21 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
22 hypoplastic toenails 56 32 occasional (7.5%) Occasional (29-5%) HP:0001800
23 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
24 telecanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000506
25 low anterior hairline 56 32 frequent (33%) Frequent (79-30%) HP:0000294
26 cutis marmorata 56 32 occasional (7.5%) Occasional (29-5%) HP:0000965
27 intellectual disability 56 32 very rare (1%) Very frequent (99-80%) HP:0001249
28 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
29 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
30 spina bifida occulta 56 32 occasional (7.5%) Occasional (29-5%) HP:0003298
31 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
32 dry skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000958
33 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
34 respiratory insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002093
35 wide anterior fontanel 56 32 frequent (33%) Frequent (79-30%) HP:0000260
36 narrow face 56 32 frequent (33%) Frequent (79-30%) HP:0000275
37 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
38 high palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000218
39 postnatal growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0008897
40 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
41 blepharophimosis 56 32 frequent (33%) Frequent (79-30%) HP:0000581
42 craniosynostosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001363
43 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
44 sandal gap 56 32 frequent (33%) Frequent (79-30%) HP:0001852
45 fine hair 56 32 frequent (33%) Frequent (79-30%) HP:0002213
46 lymphoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002665
47 metatarsus adductus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001840
48 asthma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002099
49 delayed skeletal maturation 56 32 frequent (33%) Frequent (79-30%) HP:0002750
50 eczema 56 32 frequent (33%) Frequent (79-30%) HP:0000964

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
2 4-des-dimethylaminotetracycline
3 HIV Protease Inhibitors
4 Matrix Metalloproteinase Inhibitors
5
protease inhibitors

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Survey of Current Management of Orthopaedic Complications in CMT Patients Completed NCT02001038
2 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Recruiting NCT01193075
3 Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT Recruiting NCT01203085
4 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Recruiting NCT01193088
5 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, Bone, 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
Dubowitz syndrome and the increased risk of developing malignancies. ( 26009798 )
2015
3
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. ( 25559542 )
2015
4
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. ( 24892279 )
2014
5
Profound T-cell defects in Dubowitz syndrome. ( 24899539 )
2014
6
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. ( 24973050 )
2014
7
Identification of the DNA repair defects in a case of Dubowitz syndrome. ( 23372718 )
2013
8
Dubowitz syndrome: common findings and peculiar urine odor. ( 24159261 )
2013
9
Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome. ( 23534331 )
2012
10
Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. ( 21769769 )
2011
11
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. ( 21272302 )
2011
12
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. ( 23074674 )
2011
13
Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features. ( 22121397 )
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
Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review. ( 12686766 )
2003
25
Cranial midline abnormalities in Dubowitz syndrome: MR imaging findings. ( 12695828 )
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
Atopic eczema in monozygotic twins with Dubowitz syndrome. ( 9747384 )
1998
31
Dubowitz syndrome and achalasia: two rare conditions in a child. ( 9545609 )
1998
32
Dubowitz syndrome in a boy without developmental delay: further evidence for phenotypic variability. ( 9028461 )
1997
33
Facial asymmetry, cardio-vascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome? ( 9297441 )
1996
34
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. ( 8723121 )
1996
35
Growth hormone deficiency in Dubowitz syndrome. ( 8741320 )
1996
36
Dubowitz syndrome: long-term follow-up of an original patient. ( 7536394 )
1995
37
Progressive scoliosis in Dubowitz syndrome. ( 8553122 )
1995
38
Ichthyosiform eruption in a patient with Dubowitz syndrome. ( 7659638 )
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
Dubowitz syndrome: atopic dermatitis, low birth weight dwarfism and facial dysmorphism. ( 2358105 )
1990
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
The Dubowitz syndrome--one more case. ( 3316825 )
1987
46
A Japanese patient with the Dubowitz syndrome. ( 3621642 )
1987
47
Fatal aplastic anaemia in a child with features of Dubowitz syndrome. ( 3428295 )
1987
48
The Dubowitz syndrome. ( 3709570 )
1986
49
Dubowitz syndrome. ( 3730185 )
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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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