MCID: ADD006
MIFTS: 22

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 57
Adducted Thumbs-Arthrogryposis Syndrome, Christian Type 59
Adducted Thumb 29

Characteristics:

Orphanet epidemiological data:

59
adducted thumbs-arthrogryposis syndrome, christian type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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 adducted thumbs dundar type and masa syndrome. An important gene associated with Adducted Thumbs Syndrome is L1CAM (L1 Cell Adhesion Molecule). Related phenotypes are high palate and dysphagia

Wikipedia : 76 Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing... more...

Description 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:

# Related Disease Score Top Affiliating Genes
1 adducted thumbs dundar type 12.2
2 masa syndrome 11.8
3 thumbs, congenital clasped 11.6
4 mental retardation, skeletal dysplasia, and abducens palsy 11.1
5 cleft palate, isolated 9.9
6 autosomal recessive disease 9.9

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



Diseases related to Adducted Thumbs Syndrome

Symptoms & Phenotypes for Adducted Thumbs Syndrome

Symptoms via clinical synopsis from OMIM:

57
Resp:
respiratory insufficiency

Muscle:
myopathy

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

Facies:
stiff, myopathic facies

GI:
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

Human phenotypes related to Adducted Thumbs Syndrome:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 dysphagia 32 HP:0002015
3 respiratory insufficiency 32 HP:0002093
4 microcephaly 32 HP:0000252
5 myopathy 32 HP:0003198
6 cleft palate 32 HP:0000175
7 high, narrow palate 32 HP:0002705
8 arthrogryposis multiplex congenita 32 HP:0002804
9 craniosynostosis 32 HP:0001363
10 myopathic facies 32 HP:0002058
11 generalized hypotonia 32 HP:0001290
12 velopharyngeal insufficiency 32 HP:0000220
13 hypertrichosis 32 HP:0000998
14 cerebral dysmyelination 32 HP:0007266
15 myelin-dependent gliosis 32 HP:0006990

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 Recruiting 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 29

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 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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