MCID: DBW001
MIFTS: 43

Dubowitz Syndrome

Categories: Rare 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 57 12 76 53 59 44 15 73
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
Dubowitz's Syndrome 12

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:



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 intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci, is related to dwarfism and hemifacial hyperplasia. An important gene associated with Dubowitz Syndrome is LIG4 (DNA Ligase 4). Affiliated tissues include bone, eye and testes, and related phenotypes are hypertelorism and pectus excavatum

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 : 76 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:

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
GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Dubowitz Syndrome:

59 32 (show top 50) (show all 115)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
6 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
7 intellectual disability 59 32 very rare (1%) Very frequent (99-80%) HP:0001249
8 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
9 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
10 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
11 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
12 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
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 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
16 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
17 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
18 broad thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0011304
19 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
20 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
21 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
22 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
23 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
24 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
25 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
26 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
27 dry skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000958
28 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
29 metatarsus adductus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001840
30 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
31 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
32 hypoplastic toenails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001800
33 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
34 abnormality of the fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001231
35 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
36 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
37 hypoparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000829
38 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
39 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
40 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
41 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
42 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
43 abnormality of the antihelix 59 32 frequent (33%) Frequent (79-30%) HP:0009738
44 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
45 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
46 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
47 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
48 asthma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002099
49 recurrent infections 59 32 frequent (33%) Frequent (79-30%) HP:0002719
50 sparse scalp hair 59 32 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:

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

Publications for Dubowitz Syndrome

Articles related to Dubowitz Syndrome:

(show top 50) (show all 59)
# 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
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
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. ( 21272302 )
2011
11
Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. ( 21769769 )
2011
12
Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features. ( 22121397 )
2011
13
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. ( 23074674 )
2011
14
Anesthesia of a patient with Dubowitz syndrome -A case report-. ( 20532061 )
2010
15
A case report of Dubowitz syndrome accompanied by congenital anal atresia. ( 20618476 )
2010
16
Thalassemia major in a child with Dubowitz syndrome. ( 18816807 )
2009
17
Coronary artery disease: a new manifestation in Dubowitz syndrome. ( 19330756 )
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
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
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
Ophthalmologic findings in the Dubowitz syndrome. ( 9972513 )
1999
29
Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? ( 10508998 )
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
Growth hormone deficiency in Dubowitz syndrome. ( 8741320 )
1996
35
Facial asymmetry, cardio-vascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome? ( 9297441 )
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
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
Fatal aplastic anaemia in a child with features of Dubowitz syndrome. ( 3428295 )
1987
46
The Dubowitz syndrome--one more case. ( 3316825 )
1987
47
A Japanese patient with the Dubowitz syndrome. ( 3621642 )
1987
48
The diagnosis of Dubowitz syndrome in the neonatal period--a case report. ( 3732320 )
1986
49
Dubowitz syndrome. ( 3730185 )
1986
50
The Dubowitz syndrome. ( 3709570 )
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 post-translational protein modification GO:0043687 9.33 CUL7 OBSL1 PSMD12
2 Golgi organization GO:0007030 9.32 CUL7 OBSL1
3 microtubule cytoskeleton organization GO:0000226 9.26 CUL7 OBSL1
4 regulation of mitotic nuclear division GO:0007088 8.96 CUL7 OBSL1
5 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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