MCID: FTL029
MIFTS: 27

Fetal Thalidomide Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Fetal Thalidomide Syndrome

MalaCards integrated aliases for Fetal Thalidomide Syndrome:

Name: Fetal Thalidomide Syndrome 52 58
Thalidomide Embryopathy 52 58

Characteristics:

Orphanet epidemiological data:

58
thalidomide embryopathy
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Teratologic disorders


External Ids:

ICD10 via Orphanet 33 Q86.8
UMLS via Orphanet 72 C0432365
Orphanet 58 ORPHA3312

Summaries for Fetal Thalidomide Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3312 Definition Thalidomide embryopathy is a group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus ), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment. Visit the Orphanet disease page for more resources.

MalaCards based summary : Fetal Thalidomide Syndrome, also known as thalidomide embryopathy, is related to microtia-anotia and fibular hemimelia. Affiliated tissues include heart, eye and kidney, and related phenotypes are short stature and split hand

Related Diseases for Fetal Thalidomide Syndrome

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 microtia-anotia 11.5
2 fibular hemimelia 11.5
3 leprosy 3 10.3
4 hansen's disease 10.3
5 duane retraction syndrome 1 10.2
6 holt-oram syndrome 10.2
7 strabismus 10.2
8 facial paralysis 10.2
9 mechanical strabismus 10.2
10 myeloma, multiple 10.1
11 scoliosis 10.1
12 refractive error 10.1
13 phocomelia 10.1
14 autoimmune disease 10.0
15 carpal tunnel syndrome 10.0
16 coloboma of macula 10.0
17 marcus gunn phenomenon 10.0
18 autism 10.0
19 conotruncal heart malformations 10.0
20 peters-plus syndrome 10.0
21 branchiootic syndrome 1 10.0
22 astigmatism 10.0
23 duane-radial ray syndrome 10.0
24 brown syndrome 10.0
25 deficiency anemia 10.0
26 meningocele 10.0
27 acute cystitis 10.0
28 disease of mental health 10.0
29 epilepsy 10.0
30 spondylolysis 10.0
31 sensory peripheral neuropathy 10.0
32 lipid metabolism disorder 10.0
33 peripheral nervous system disease 10.0
34 cataract 10.0
35 osteoarthritis 10.0
36 neuropathy 10.0
37 cleft lip 10.0
38 fatty liver disease 10.0
39 47,xyy 10.0
40 sall4-related disorders 10.0
41 congenital femoral deficiency 10.0
42 hemimelia 10.0
43 amelia 10.0
44 rare disease in surgical orthopedic 10.0

Graphical network of the top 20 diseases related to Fetal Thalidomide Syndrome:



Diseases related to Fetal Thalidomide Syndrome

Symptoms & Phenotypes for Fetal Thalidomide Syndrome

Human phenotypes related to Fetal Thalidomide Syndrome:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
2 split hand 58 31 frequent (33%) Frequent (79-30%) HP:0001171
3 preaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001177
4 triphalangeal thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001199
5 aplasia/hypoplasia of the thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009601
6 aplasia/hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0006495
7 aplasia/hypoplasia of the humerus 58 31 frequent (33%) Frequent (79-30%) HP:0006507
8 radial club hand 58 31 frequent (33%) Frequent (79-30%) HP:0004059
9 upper limb phocomelia 58 31 frequent (33%) Frequent (79-30%) HP:0009813
10 abnormality of fibula morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002991
11 aplasia/hypoplasia of the femur 58 31 frequent (33%) Frequent (79-30%) HP:0005613
12 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
13 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
14 chronic rhinitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002257
15 insulin resistance 58 31 occasional (7.5%) Occasional (29-5%) HP:0000855
16 anotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009892
17 malformation of the heart and great vessels 58 Frequent (79-30%)
18 abnormality of the outer ear 58 Occasional (29-5%)

Drugs & Therapeutics for Fetal Thalidomide Syndrome

Search Clinical Trials , NIH Clinical Center for Fetal Thalidomide Syndrome

Genetic Tests for Fetal Thalidomide Syndrome

Anatomical Context for Fetal Thalidomide Syndrome

MalaCards organs/tissues related to Fetal Thalidomide Syndrome:

40
Heart, Eye, Kidney, Liver, Bone, Skin, Prostate

Publications for Fetal Thalidomide Syndrome

Articles related to Fetal Thalidomide Syndrome:

(show top 50) (show all 162)
# Title Authors PMID Year
1
CRL4-Cereblon complex in Thalidomide Embryopathy: a translational investigation. 61
31964914 2020
2
A nationwide survey regarding the life situations of patients with thalidomide embryopathy in Japan, 2018: First report. 61
31339667 2019
3
Reference tables with centiles of limb to body height ratios of healthy human adults for assessing potential thalidomide embryopathy. 61
30869735 2019
4
Life situation of women impaired by Thalidomide embryopathy in North Rhine-Westphalia - a comparative analysis of a recent cross-sectional study with earlier data. 61
30943953 2019
5
Thalidomide and Its Analogs Differentially Target Fibroblast Growth Factor Receptors: Thalidomide Suppresses FGFR Gene Expression while Pomalidomide Dampens FGFR2 Activity. 61
30834740 2019
6
A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE). 61
30253685 2019
7
SALL4 mediates teratogenicity as a thalidomide-dependent cereblon substrate. 61
30190590 2018
8
Assessment of Congenital Vascular and Organ Anomalies in Subjects With Thalidomide Embryopathy Using Non-Contrast Magnetic Resonance Angiography. 61
29998932 2018
9
Robotic assisted radical prostatectomy for localised prostate cancer in thalidomide generation. 61
28849319 2018
10
Genetic susceptibility to thalidomide embryopathy in humans: Study of candidate development genes. 61
29193903 2018
11
Thalidomide Embryopathy as Possible Cause of Anterior Sacral Meningocele: A Case Report. 61
28990356 2017
12
Angiogenesis-related genes and thalidomide teratogenesis in humans: an approach on genetic variation and review of past in vitro studies. 61
28161597 2017
13
Congenital Malformations Attributed to Prenatal Exposure to Cyclophosphamide. 61
27924730 2017
14
The impact of thalidomide use in birth defects in Brazil. 61
27638330 2017
15
Middle-aged individuals with thalidomide embryopathy have undergone few surgical limb procedures and demonstrate a high degree of physical independence. 61
29053750 2017
16
Genomic and in silico analyses of CRBN gene and thalidomide embryopathy in humans. 61
27751757 2016
17
Health-related quality of life and function in middle-aged individuals with thalidomide embryopathy. 61
27854003 2016
18
Internal anomalies in thalidomide embryopathy: results of imaging screening by CT and MRI. 61
27567725 2016
19
New Findings in eNOS gene and Thalidomide Embryopathy Suggest pre-transcriptional effect variants as susceptibility factors. 61
27004986 2016
20
Degenerative Changes in the Cervical Spine Are More Common in Middle-Aged Individuals with Thalidomide Embryopathy than in Healthy Controls. 61
27175919 2016
21
Peripheral Nerve Dysfunction in Middle-Aged Subjects Born with Thalidomide Embryopathy. 61
27100829 2016
22
Multicenter investigation of lifestyle-related diseases and visceral disorders in thalidomide embryopathy at around 50 years of age. 61
26033770 2015
23
Thalidomide embryopathy: Follow-up of cases born between 1959 and 2010. 61
26043318 2015
24
Pharmacoepidemiology and thalidomide embryopathy surveillance in Brazil. 61
25828060 2015
25
Long-term follow-up of thalidomide embryopathy: malformations and development of osteoarthritis in the lower extremities and evaluation of upper extremity function. 61
25301261 2014
26
Psychological and mental health problems in patients with thalidomide embryopathy in Japan. 61
24548169 2014
27
From rumors to genetic isolates. 61
24764753 2014
28
Polymorphisms in the endothelial nitric oxide synthase gene in thalidomide embryopathy. 61
24055736 2013
29
Clinical use and control of the dispensing of thalidomide in Brasilia-Federal District, Brazil, from 2001 to 2012. 61
24196904 2013
30
Peripheral arterial reconstruction in a patient with thalidomide embryopathy and chronic occlusion of the femoral artery. 61
23823863 2013
31
Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy. 61
23710497 2013
32
Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings. 61
23448904 2013
33
Facial palsy in individuals with thalidomide embryopathy: frequency and characteristics. 61
22892220 2012
34
ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects. 61
22786781 2012
35
Epidemiological surveillance of birth defects compatible with thalidomide embryopathy in Brazil. 61
21754997 2011
36
Fetal malformations and early embryonic gene expression response in cynomolgus monkeys maternally exposed to thalidomide. 61
19751816 2010
37
[Thalidomide (Contergan) induced limb deficiency in Hungary?]. 61
19497840 2009
38
Thalidomide induces limb defects by preventing angiogenic outgrowth during early limb formation. 61
19433787 2009
39
Dental status and oral function in an adult group of subjects with thalidomide embryopathy - a clinical and questionnaire study. 61
18720052 2008
40
Congenital aberrant tearing: a re-look. 61
19277226 2008
41
Clinical characterization of the HOXA1 syndrome BSAS variant. 61
17875913 2007
42
New cases of thalidomide embryopathy in Brazil. 61
17676592 2007
43
Venous ulcers of the lower limbs due to congenital thalidomide-related valve defect. 61
17652228 2007
44
Thalidomide embryopathy cases in Brazil after 1965. 61
16427249 2006
45
Carpal tunnel syndrome accompanying radial dysplasia due to thalidomide embryopathy. 61
16530898 2006
46
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. 61
16086360 2005
47
Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review. 61
15749246 2005
48
Reduced somatosensory hand representation in thalidomide-induced dysmelia as revealed by fMRI. 61
15673455 2005
49
Autism with ophthalmologic malformations: the plot thickens. 61
15747750 2004
50
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. 61
12843316 2003

Variations for Fetal Thalidomide Syndrome

Expression for Fetal Thalidomide Syndrome

Search GEO for disease gene expression data for Fetal Thalidomide Syndrome.

Pathways for Fetal Thalidomide Syndrome

GO Terms for Fetal Thalidomide Syndrome

Sources for Fetal Thalidomide Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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