MCID: ADD006
MIFTS: 23

Adducted Thumbs Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Adducted Thumbs Syndrome

MalaCards integrated aliases for Adducted Thumbs Syndrome:

Name: Adducted Thumbs Syndrome 56
Adducted Thumbs-Arthrogryposis Syndrome, Christian Type 58
Adducted Thumb 29

Characteristics:

Orphanet epidemiological data:

58
adducted thumbs-arthrogryposis syndrome, christian type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
adducted thumbs syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Adducted Thumbs Syndrome

MalaCards based summary : Adducted Thumbs Syndrome, also known as adducted thumbs-arthrogryposis syndrome, christian type, is related to ehlers-danlos syndrome, musculocontractural type, 1 and musculocontractural ehlers-danlos syndrome. An important gene associated with Adducted Thumbs Syndrome is L1CAM (L1 Cell Adhesion Molecule). Affiliated tissues include brain, and related phenotypes are high palate and dysphagia

Wikipedia : 74 Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing... more...

More information from OMIM: 201550

Related Diseases for Adducted Thumbs Syndrome

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

(showing 53, show less)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, musculocontractural type, 1 12.4
2 musculocontractural ehlers-danlos syndrome 12.3
3 masa syndrome 12.2
4 thumbs, congenital clasped 11.9
5 hydrocephalus due to congenital stenosis of aqueduct of sylvius 11.7
6 mental retardation, skeletal dysplasia, and abducens palsy 11.4
7 arthrogryposis, distal, type 5d 11.3
8 clubfoot 10.4
9 ehlers-danlos syndrome 10.3
10 cleft palate, isolated 10.1
11 corpus callosum, agenesis of 10.1
12 dubowitz syndrome 10.1
13 distal arthrogryposis 10.1
14 aphasia 10.1
15 paraplegia 10.1
16 congenital contractures 10.1
17 spastic paraparesis 10.1
18 palatopharyngeal incompetence 10.0
19 alkuraya-kucinskas syndrome 10.0
20 autosomal recessive disease 10.0
21 hydrocephalus 10.0
22 hypertrichosis 10.0
23 microcephaly 10.0
24 hypotonia 10.0
25 congenital amyoplasia 10.0
26 telecanthus 10.0
27 tetralogy of fallot 10.0
28 cerebellar hypoplasia 10.0
29 muscular dystrophy-dystroglycanopathy , type a, 1 10.0
30 marden-walker syndrome 10.0
31 muscular dystrophy-dystroglycanopathy , type a, 4 10.0
32 multiple pterygium syndrome, escobar variant 10.0
33 corpus callosum, partial agenesis of, x-linked 10.0
34 kearns-sayre syndrome 10.0
35 congenital disorder of glycosylation, type ii 10.0
36 congenital disorder of glycosylation, type in 10.0
37 muscular dystrophy, congenital, lmna-related 10.0
38 walker-warburg syndrome 10.0
39 ptosis 10.0
40 pontocerebellar hypoplasia 10.0
41 blepharophimosis 10.0
42 myopia 10.0
43 entropion 10.0
44 heart septal defect 10.0
45 atrial heart septal defect 10.0
46 polyhydramnios 10.0
47 muscular dystrophy 10.0
48 congenital disorders of n-linked glycosylation and multiple pathway 10.0
49 hypermobile ehlers-danlos syndrome 10.0
50 plod1-related kyphoscoliotic ehlers-danlos syndrome 10.0
51 congenital hydrocephalus 10.0
52 muscle eye brain disease 10.0
53 defect in conserved oligomeric golgi complex 10.0

Graphical network of the top 20 diseases related to Adducted Thumbs Syndrome:



Diseases related to Adducted Thumbs Syndrome

Symptoms & Phenotypes for Adducted Thumbs Syndrome

Human phenotypes related to Adducted Thumbs Syndrome:

31 (showing 15, show less)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 dysphagia 31 HP:0002015
3 respiratory insufficiency 31 HP:0002093
4 craniosynostosis 31 HP:0001363
5 microcephaly 31 HP:0000252
6 arthrogryposis multiplex congenita 31 HP:0002804
7 myopathy 31 HP:0003198
8 cleft palate 31 HP:0000175
9 generalized hypotonia 31 HP:0001290
10 high, narrow palate 31 HP:0002705
11 myopathic facies 31 HP:0002058
12 hypertrichosis 31 HP:0000998
13 velopharyngeal insufficiency 31 HP:0000220
14 cerebral dysmyelination 31 HP:0007266
15 myelin-dependent gliosis 31 HP:0006990

Symptoms via clinical synopsis from OMIM:

56
Resp:
respiratory insufficiency

Muscle:
myopathy

Skin:
hypertrichosis

Facies:
stiff, myopathic facies

G I:
swallowing difficulties

Head:
microcephaly
craniostenosis

Mouth:
cleft palate
mouth open
palate high-arched

Neuro:
velopharyngeal insufficiency
dysmyelination with excess myelin-dependent gliosis
myelin solubilization
hypotonia, generalized

Joints:
thumbs flexed and adducted
arthrogryposis of elbows, wrists, and knees

Clinical features from OMIM:

201550

Drugs & Therapeutics for Adducted Thumbs Syndrome

Search Clinical Trials , NIH Clinical Center for Adducted Thumbs Syndrome

Genetic Tests for Adducted Thumbs Syndrome

Genetic tests related to Adducted Thumbs Syndrome:

# Genetic test Affiliating Genes
1 Adducted Thumb 29

Anatomical Context for Adducted Thumbs Syndrome

MalaCards organs/tissues related to Adducted Thumbs Syndrome:

40
Brain

Publications for Adducted Thumbs Syndrome

Articles related to Adducted Thumbs Syndrome:

(showing 9, show less)
# Title Authors PMID Year
1
Adducted thumb syndromes. 56 61
1175322 1975
2
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. 56 61
5116596 1971
3
Adducted thumb syndrome. Report of a new case and a diagnostic approach. 56
6662143 1983
4
Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development. 61
20127821 2010
5
Prenatal diagnosis in a family with X-linked hydrocephalus. 61
16088863 2005
6
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule. 61
8826452 1996
7
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes. 61
8782167 1996
8
Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1. 61
8636066 1996
9
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. 61
7762552 1995

Variations for Adducted Thumbs Syndrome

Expression for Adducted Thumbs Syndrome

Search GEO for disease gene expression data for Adducted Thumbs Syndrome.

Pathways for Adducted Thumbs Syndrome

GO Terms for Adducted Thumbs Syndrome

Sources for Adducted Thumbs 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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