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 58
Adducted Thumbs-Arthrogryposis Syndrome, Christian Type 60
Adducted Thumb 30

Characteristics:

Orphanet epidemiological data:

60
adducted thumbs-arthrogryposis syndrome, christian type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
adducted thumbs syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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). Related phenotypes are high palate and dysphagia

Wikipedia : 77 Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing... more...

Description from OMIM: 201550

Related Diseases for Adducted Thumbs Syndrome

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:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 dysphagia 33 HP:0002015
3 respiratory insufficiency 33 HP:0002093
4 microcephaly 33 HP:0000252
5 myopathy 33 HP:0003198
6 cleft palate 33 HP:0000175
7 high, narrow palate 33 HP:0002705
8 arthrogryposis multiplex congenita 33 HP:0002804
9 craniosynostosis 33 HP:0001363
10 myopathic facies 33 HP:0002058
11 generalized hypotonia 33 HP:0001290
12 velopharyngeal insufficiency 33 HP:0000220
13 hypertrichosis 33 HP:0000998
14 cerebral dysmyelination 33 HP:0007266
15 myelin-dependent gliosis 33 HP:0006990

Symptoms via clinical synopsis from OMIM:

58
Resp:
respiratory insufficiency

Muscle:
myopathy

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

Facies:
stiff, myopathic facies

G I:
swallowing difficulties

Head:
microcephaly
craniostenosis

Mouth:
cleft palate
mouth open
palate high-arched

Skin:
hypertrichosis

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

Clinical features from OMIM:

201550

Drugs & Therapeutics for Adducted Thumbs Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Kinesiotaping the Hand in Cerebral Palsy Completed NCT02073513 Not Applicable
2 Effectiveness of the Functional Hand Splint and Specific Tasks in the Domiciliary Environment Applied to Children With Unilateral Cerebral Palsy Completed NCT03282422 Not Applicable

Search 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 30

Anatomical Context for Adducted Thumbs Syndrome

Publications for Adducted Thumbs Syndrome

Articles related to Adducted Thumbs Syndrome:

# Title Authors Year
1
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. ( 5116596 )
1971

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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