MCID: MYT024
MIFTS: 18

Myotonia with Skeletal Abnormalities and Mental Retardation

Categories: Bone diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myotonia with Skeletal Abnormalities and Mental Retardation

MalaCards integrated aliases for Myotonia with Skeletal Abnormalities and Mental Retardation:

Name: Myotonia with Skeletal Abnormalities and Mental Retardation 56
Myotonia-Intellectual Disability-Skeletal Anomalies Syndrome 58
Richieri Costa Da Silva Syndrome 71
Richieri Costa-Da Silva Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset 5-7 years


HPO:

31
myotonia with skeletal abnormalities and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 255710
MESH via Orphanet 44 C535675
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C2930978
Orphanet 58 ORPHA3101
MedGen 41 C1850654
UMLS 71 C2930978

Summaries for Myotonia with Skeletal Abnormalities and Mental Retardation

MalaCards based summary : Myotonia with Skeletal Abnormalities and Mental Retardation, also known as myotonia-intellectual disability-skeletal anomalies syndrome, is related to richieri costa da silva syndrome. Affiliated tissues include bone and skeletal muscle, and related phenotypes are pectus carinatum and short stature

More information from OMIM: 255710

Related Diseases for Myotonia with Skeletal Abnormalities and Mental Retardation

Diseases related to Myotonia with Skeletal Abnormalities and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 richieri costa da silva syndrome 11.7

Symptoms & Phenotypes for Myotonia with Skeletal Abnormalities and Mental Retardation

Human phenotypes related to Myotonia with Skeletal Abnormalities and Mental Retardation:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
4 handgrip myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012899
5 myotonia of the upper limb 58 31 hallmark (90%) Very frequent (99-80%) HP:0012903
6 intellectual disability, profound 58 31 hallmark (90%) Very frequent (99-80%) HP:0002187
7 intermittent painful muscle spasms 58 31 hallmark (90%) Very frequent (99-80%) HP:0011964
8 generalized bone demineralization 58 31 hallmark (90%) Very frequent (99-80%) HP:0006462
9 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
10 falls 58 31 frequent (33%) Frequent (79-30%) HP:0002527
11 vertebral wedging 58 31 frequent (33%) Frequent (79-30%) HP:0008422
12 skeletal muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003712
13 weak voice 58 31 frequent (33%) Frequent (79-30%) HP:0001621
14 distal lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009053
15 decreased anterioposterior diameter of lumbar vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0005638
16 emg: myokymic discharges 58 31 frequent (33%) Frequent (79-30%) HP:0100288
17 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
18 beaking of vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0004568
19 decreased muscle mass 58 31 occasional (7.5%) Occasional (29-5%) HP:0003199
20 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
21 metatarsus adductus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001840
22 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
23 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
24 esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000565
25 asymmetric limb muscle stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007156
26 low-set ears 58 Excluded (0%)
27 short neck 58 Excluded (0%)
28 joint dislocation 58 Excluded (0%)
29 abnormality of the dentition 58 Excluded (0%)
30 intellectual disability, mild 31 HP:0001256
31 myotonia 31 HP:0002486
32 limitation of joint mobility 58 Excluded (0%)
33 narrow mouth 58 Excluded (0%)
34 flat face 58 Excluded (0%)
35 low anterior hairline 58 Excluded (0%)
36 blepharophimosis 58 Excluded (0%)
37 high pitched voice 58 Excluded (0%)
38 diastasis recti 58 Excluded (0%)
39 bell-shaped thorax 31 HP:0001591
40 firm muscles 31 HP:0003725
41 irregular femoral epiphysis 31 HP:0006361

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
genu valgum
irregular femoral epiphyses

Growth Height:
short stature

Skeletal Spine:
kyphoscoliosis
short vertebrae (thoracolumbar)
wedge-shaped vertebrae

Chest External Features:
bell-shaped chest

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Neurologic Central Nervous System:
myotonia
mental retardation, mild-moderate
rigid gait
progressive impairment of gait

Muscle Soft Tissue:
firm muscles
muscular hypertrophy

Clinical features from OMIM:

255710

Drugs & Therapeutics for Myotonia with Skeletal Abnormalities and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Myotonia with Skeletal Abnormalities and Mental Retardation

Genetic Tests for Myotonia with Skeletal Abnormalities and Mental Retardation

Anatomical Context for Myotonia with Skeletal Abnormalities and Mental Retardation

MalaCards organs/tissues related to Myotonia with Skeletal Abnormalities and Mental Retardation:

40
Bone, Skeletal Muscle

Publications for Myotonia with Skeletal Abnormalities and Mental Retardation

Articles related to Myotonia with Skeletal Abnormalities and Mental Retardation:

# Title Authors PMID Year
1
Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. 56
6716408 1984

Variations for Myotonia with Skeletal Abnormalities and Mental Retardation

Expression for Myotonia with Skeletal Abnormalities and Mental Retardation

Search GEO for disease gene expression data for Myotonia with Skeletal Abnormalities and Mental Retardation.

Pathways for Myotonia with Skeletal Abnormalities and Mental Retardation

GO Terms for Myotonia with Skeletal Abnormalities and Mental Retardation

Sources for Myotonia with Skeletal Abnormalities and Mental Retardation

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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