MCID: DBW001
MIFTS: 44

Dubowitz Syndrome

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

Aliases & Classifications for Dubowitz Syndrome

MalaCards integrated aliases for Dubowitz Syndrome:

Name: Dubowitz Syndrome 53 12 72 49 55 41 14 69
Intrauterine Growth Retardation, Short Stature, Microcephaly, Mild Mental Retardation with Behavior Problems, Eczema, and Unusual and Distinctive Faci 49
Dwarfism-Eczema-Peculiar Facies Syndrome 49
Dubowitz's Syndrome 12

Characteristics:

Orphanet epidemiological data:

55
dubowitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
dubowitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dubowitz Syndrome

NIH Rare Diseases : 49 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 arteries, anomalies of, and has symptoms including seizures, dry skin and hypertelorism. An important gene associated with Dubowitz Syndrome is LIG4 (DNA Ligase 4). 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, 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

Symptoms via clinical synopsis from OMIM:

53
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 Gastroin testinal:
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

Human phenotypes related to Dubowitz Syndrome:

55 31 (show top 50) (show all 114)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 dry skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000958
3 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
5 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
6 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
7 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
8 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
9 intellectual disability 55 31 very rare (1%) Very frequent (99-80%) HP:0001249
10 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
11 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
13 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
14 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
15 depressed nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0005280
16 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
17 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
18 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
19 broad thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0011304
20 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
21 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
22 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
23 delayed eruption of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000684
24 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
25 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
26 short foot 55 31 frequent (33%) Frequent (79-30%) HP:0001773
27 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
28 attention deficit hyperactivity disorder 55 31 frequent (33%) Frequent (79-30%) HP:0007018
29 metatarsus adductus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001840
30 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
31 postnatal growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0008897
32 hypoplastic toenails 55 31 occasional (7.5%) Occasional (29-5%) HP:0001800
33 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
34 abnormality of the fingernails 55 31 occasional (7.5%) Occasional (29-5%) HP:0001231
35 thrombocytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001873
36 protruding ear 55 31 frequent (33%) Frequent (79-30%) HP:0000411
37 hypoparathyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000829
38 telecanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000506
39 wide mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000154
40 hypospadias 55 31 frequent (33%) Frequent (79-30%) HP:0000047
41 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
42 small hand 55 31 frequent (33%) Frequent (79-30%) HP:0200055
43 abnormality of the antihelix 55 31 frequent (33%) Frequent (79-30%) HP:0009738
44 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
45 narrow face 55 31 frequent (33%) Frequent (79-30%) HP:0000275
46 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
47 sandal gap 55 31 frequent (33%) Frequent (79-30%) HP:0001852
48 asthma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002099
49 recurrent infections 55 31 frequent (33%) Frequent (79-30%) HP:0002719
50 sparse scalp hair 55 31 frequent (33%) Frequent (79-30%) HP:0002209

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

Anatomical Context for Dubowitz Syndrome

MalaCards organs/tissues related to Dubowitz Syndrome:

38
Eye, Testes, Skin, Bone, Heart, Neutrophil, T Cells

Publications for Dubowitz Syndrome

Articles related to Dubowitz Syndrome:

(show top 50) (show all 59)
# Title Authors Year
1
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. ( 25559542 )
2015
2
Dubowitz syndrome and the increased risk of developing malignancies. ( 26009798 )
2015
3
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome. ( 26377242 )
2015
4
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. ( 24973050 )
2014
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
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
Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features. ( 22121397 )
2011
11
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. ( 23074674 )
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
Association between nasal polyposis, Dubowitz syndrome and hyper-IgE syndrome. ( 18329728 )
2008
19
Dubowitz syndrome: a cholesterol metabolism disorder? ( 18990984 )
2008
20
Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q. ( 17375538 )
2006
21
Dubowitz syndrome: report of a case with emphasis on the oral features. ( 16568913 )
2005
22
What syndrome is this? Dubowitz syndrome. ( 16191007 )
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
Sudden development of bilateral cataract in a child with Dubowitz syndrome: a case report. ( 11761556 )
2000
27
Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome. ( 10797433 )
2000
28
Ophthalmologic findings in the Dubowitz syndrome. ( 9972513 )
1999
29
Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? ( 10508998 )
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
Growth hormone deficiency in Dubowitz syndrome. ( 8741320 )
1996
34
Facial asymmetry, cardio-vascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome? ( 9297441 )
1996
35
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. ( 8723121 )
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
New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism. ( 2248292 )
1990
44
Dubowitz syndrome: possible evidence for a clinical subtype. ( 2185633 )
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
The diagnosis of Dubowitz syndrome in the neonatal period--a case report. ( 3732320 )
1986
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 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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