Richieri Costa-da Silva syndrome

Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0000768 Pectus carinatum Very frequent (99-80%)
HP:0002187 Intellectual disability, profound Very frequent (99-80%)
HP:0002751 Kyphoscoliosis Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006462 Generalized bone demineralization Very frequent (99-80%)
HP:0011964 Intermittent painful muscle spasms Very frequent (99-80%)
HP:0012899 Handgrip myotonia Very frequent (99-80%)
HP:0012903 Myotonia of the upper limb Very frequent (99-80%)
HP:0001621 Weak voice Frequent (79-30%)
HP:0002015 Dysphagia Frequent (79-30%)
HP:0002527 Falls Frequent (79-30%)
HP:0003712 Skeletal muscle hypertrophy Frequent (79-30%)
HP:0005638 Decreased anterioposterior diameter of lumbar vertebral bodies Frequent (79-30%)
HP:0008422 Vertebral wedging Frequent (79-30%)
HP:0009053 Distal lower limb muscle weakness Frequent (79-30%)
HP:0100288 EMG: myokymic discharges Frequent (79-30%)
HP:0000565 Esotropia Occasional (29-5%)
HP:0001265 Hyporeflexia Occasional (29-5%)
HP:0001284 Areflexia Occasional (29-5%)
HP:0001840 Metatarsus adductus Occasional (29-5%)
HP:0002540 Inability to walk Occasional (29-5%)
HP:0002857 Genu valgum Occasional (29-5%)
HP:0003199 Decreased muscle mass Occasional (29-5%)
HP:0004568 Beaking of vertebral bodies Occasional (29-5%)
HP:0007156 Asymmetric limb muscle stiffness Occasional (29-5%)
HP:0000160 Narrow mouth Excluded (0%)
HP:0000164 Abnormality of the dentition Excluded (0%)
HP:0000294 Low anterior hairline Excluded (0%)
HP:0000369 Low-set ears Excluded (0%)
HP:0000470 Short neck Excluded (0%)
HP:0000581 Blepharophimosis Excluded (0%)
HP:0001373 Joint dislocation Excluded (0%)
HP:0001376 Limitation of joint mobility Excluded (0%)
HP:0001540 Diastasis recti Excluded (0%)
HP:0001620 High pitched voice Excluded (0%)
HP:0012368 Flat face Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID